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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: 8-17027404-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17027404&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MICU3",
"hgnc_id": 27820,
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_181723.3",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000289225",
"hgnc_id": null,
"hgvs_c": "n.-175G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000691434.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 24,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0938,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "8",
"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": 0.07018354535102844,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1593,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_181723.3",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318063.10",
"protein_coding": true,
"protein_id": "NP_859074.1",
"strand": true,
"transcript": "NM_181723.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3990,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1593,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000318063.10",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181723.3",
"protein_coding": true,
"protein_id": "ENSP00000321455.5",
"strand": true,
"transcript": "ENST00000318063.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1575,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001349810.2",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336739.1",
"strand": true,
"transcript": "NM_001349810.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 145,
"cds_end": null,
"cds_length": 1575,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000952687.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622746.1",
"strand": true,
"transcript": "ENST00000952687.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 141,
"cds_end": null,
"cds_length": 1566,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000952690.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622749.1",
"strand": true,
"transcript": "ENST00000952690.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1554,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001413217.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400146.1",
"strand": true,
"transcript": "NM_001413217.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7171,
"cdna_start": 149,
"cds_end": null,
"cds_length": 1554,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000519044.6",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427765.2",
"strand": true,
"transcript": "ENST00000519044.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 514,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3942,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1545,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001413223.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400152.1",
"strand": true,
"transcript": "NM_001413223.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 501,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3874,
"cdna_start": 144,
"cds_end": null,
"cds_length": 1506,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000952688.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622747.1",
"strand": true,
"transcript": "ENST00000952688.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 498,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1497,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001413218.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400147.1",
"strand": true,
"transcript": "NM_001413218.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 498,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5474,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1497,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000908133.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578192.1",
"strand": true,
"transcript": "ENST00000908133.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 498,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 144,
"cds_end": null,
"cds_length": 1497,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000908135.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578194.1",
"strand": true,
"transcript": "ENST00000908135.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 492,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3840,
"cdna_start": 137,
"cds_end": null,
"cds_length": 1479,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000952692.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622751.1",
"strand": true,
"transcript": "ENST00000952692.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 485,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1458,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001413219.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400148.1",
"strand": true,
"transcript": "NM_001413219.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 485,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3815,
"cdna_start": 137,
"cds_end": null,
"cds_length": 1458,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920038.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590097.1",
"strand": true,
"transcript": "ENST00000920038.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1434,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001413226.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400155.1",
"strand": true,
"transcript": "NM_001413226.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 468,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3804,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1407,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001413222.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400151.1",
"strand": true,
"transcript": "NM_001413222.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1272,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001413225.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400154.1",
"strand": true,
"transcript": "NM_001413225.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 423,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3640,
"cdna_start": 148,
"cds_end": null,
"cds_length": 1272,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000952689.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622748.1",
"strand": true,
"transcript": "ENST00000952689.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1224,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001413224.1",
"gene_hgnc_id": 27820,
"gene_symbol": "MICU3",
"hgvs_c": "c.125C>G",
"hgvs_p": "p.Pro42Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400153.1",
"strand": true,
"transcript": "NM_001413224.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1224,
"cds_start": 125,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
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}