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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: 4-23802243-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=23802243&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPARGC1A",
"hgnc_id": 9237,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Val713Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001330751.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.1212,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4965299069881439,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 798,
"aa_ref": "V",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6288,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2397,
"cds_start": 2122,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_013261.5",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2122G>A",
"hgvs_p": "p.Val708Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264867.7",
"protein_coding": true,
"protein_id": "NP_037393.1",
"strand": false,
"transcript": "NM_013261.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 798,
"aa_ref": "V",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6288,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2397,
"cds_start": 2122,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000264867.7",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2122G>A",
"hgvs_p": "p.Val708Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013261.5",
"protein_coding": true,
"protein_id": "ENSP00000264867.2",
"strand": false,
"transcript": "ENST00000264867.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 671,
"aa_ref": "V",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000613098.4",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Val581Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481498.1",
"strand": false,
"transcript": "ENST00000613098.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000506055.5",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "n.*1337G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423075.1",
"strand": false,
"transcript": "ENST00000506055.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000506055.5",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "n.*1337G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423075.1",
"strand": false,
"transcript": "ENST00000506055.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 813,
"aa_ref": "V",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 2257,
"cds_end": null,
"cds_length": 2442,
"cds_start": 2167,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907769.1",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2167G>A",
"hgvs_p": "p.Val723Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577828.1",
"strand": false,
"transcript": "ENST00000907769.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 803,
"aa_ref": "V",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6908,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2137,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001330751.2",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Val713Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317680.1",
"strand": false,
"transcript": "NM_001330751.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 803,
"aa_ref": "V",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6843,
"cdna_start": 2767,
"cds_end": null,
"cds_length": 2412,
"cds_start": 2137,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001354825.2",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Val713Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341754.1",
"strand": false,
"transcript": "NM_001354825.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 801,
"aa_ref": "V",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6837,
"cdna_start": 2767,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2137,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001354827.2",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Val713Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341756.1",
"strand": false,
"transcript": "NM_001354827.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 786,
"aa_ref": "V",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6740,
"cdna_start": 2664,
"cds_end": null,
"cds_length": 2361,
"cds_start": 2086,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001330752.2",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Val696Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317681.1",
"strand": false,
"transcript": "NM_001330752.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 757,
"aa_ref": "V",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2498,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1999,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907771.1",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.1999G>A",
"hgvs_p": "p.Val667Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577830.1",
"strand": false,
"transcript": "ENST00000907771.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 671,
"aa_ref": "V",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 2261,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001330753.2",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Val581Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317682.1",
"strand": false,
"transcript": "NM_001330753.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 671,
"aa_ref": "V",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6844,
"cdna_start": 2768,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001354826.2",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.1741G>A",
"hgvs_p": "p.Val581Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341755.1",
"strand": false,
"transcript": "NM_001354826.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 802,
"aa_ref": "V",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2134,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005248131.6",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2134G>A",
"hgvs_p": "p.Val712Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248188.1",
"strand": false,
"transcript": "XM_005248131.6",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 795,
"aa_ref": "V",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6240,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005248132.1",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2113G>A",
"hgvs_p": "p.Val705Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248189.1",
"strand": false,
"transcript": "XM_005248132.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 786,
"aa_ref": "V",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6252,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2361,
"cds_start": 2086,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047449546.1",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Val696Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305502.1",
"strand": false,
"transcript": "XM_047449546.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 763,
"aa_ref": "V",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6273,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2017,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011513768.2",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Val673Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512070.1",
"strand": false,
"transcript": "XM_011513768.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 763,
"aa_ref": "V",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6489,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2017,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047449547.1",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Val673Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305503.1",
"strand": false,
"transcript": "XM_047449547.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 763,
"aa_ref": "V",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6298,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2017,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047449548.1",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Val673Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305504.1",
"strand": false,
"transcript": "XM_047449548.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 763,
"aa_ref": "V",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7421,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2017,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047449549.1",
"gene_hgnc_id": 9237,
"gene_symbol": "PPARGC1A",
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Val673Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305505.1",
"strand": false,
"transcript": "XM_047449549.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 763,
"aa_ref": "V",
"aa_start": 673,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6353,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 2292,
"cds_start": 2017,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
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