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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: 4-23802234-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=23802234&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 23802234,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001330751.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2131C>T",
"hgvs_p": "p.Arg711Trp",
"transcript": "NM_013261.5",
"protein_id": "NP_037393.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 798,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264867.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013261.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2131C>T",
"hgvs_p": "p.Arg711Trp",
"transcript": "ENST00000264867.7",
"protein_id": "ENSP00000264867.2",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 798,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013261.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264867.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Trp",
"transcript": "ENST00000613098.4",
"protein_id": "ENSP00000481498.1",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 671,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613098.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.*1346C>T",
"hgvs_p": null,
"transcript": "ENST00000506055.5",
"protein_id": "ENSP00000423075.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506055.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.*1346C>T",
"hgvs_p": null,
"transcript": "ENST00000506055.5",
"protein_id": "ENSP00000423075.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506055.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Arg726Trp",
"transcript": "ENST00000907769.1",
"protein_id": "ENSP00000577828.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 813,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907769.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.Arg716Trp",
"transcript": "NM_001330751.2",
"protein_id": "NP_001317680.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 803,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330751.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.Arg716Trp",
"transcript": "NM_001354825.2",
"protein_id": "NP_001341754.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 803,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354825.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.Arg716Trp",
"transcript": "NM_001354827.2",
"protein_id": "NP_001341756.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 801,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354827.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Trp",
"transcript": "NM_001330752.2",
"protein_id": "NP_001317681.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 786,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330752.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2008C>T",
"hgvs_p": "p.Arg670Trp",
"transcript": "ENST00000907771.1",
"protein_id": "ENSP00000577830.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 757,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907771.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Trp",
"transcript": "NM_001330753.2",
"protein_id": "NP_001317682.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 671,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330753.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Trp",
"transcript": "NM_001354826.2",
"protein_id": "NP_001341755.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 671,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354826.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2143C>T",
"hgvs_p": "p.Arg715Trp",
"transcript": "XM_005248131.6",
"protein_id": "XP_005248188.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 802,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248131.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Trp",
"transcript": "XM_005248132.1",
"protein_id": "XP_005248189.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 795,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248132.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Arg699Trp",
"transcript": "XM_047449546.1",
"protein_id": "XP_047305502.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 786,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449546.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2026C>T",
"hgvs_p": "p.Arg676Trp",
"transcript": "XM_011513768.2",
"protein_id": "XP_011512070.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 763,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513768.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2026C>T",
"hgvs_p": "p.Arg676Trp",
"transcript": "XM_047449547.1",
"protein_id": "XP_047305503.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 763,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449547.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2026C>T",
"hgvs_p": "p.Arg676Trp",
"transcript": "XM_047449548.1",
"protein_id": "XP_047305504.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 763,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449548.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2026C>T",
"hgvs_p": "p.Arg676Trp",
"transcript": "XM_047449549.1",
"protein_id": "XP_047305505.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 763,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449549.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2026C>T",
"hgvs_p": "p.Arg676Trp",
"transcript": "XM_047449550.1",
"protein_id": "XP_047305506.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 763,
"cds_start": 2026,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449550.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Trp",
"transcript": "XM_011513771.2",
"protein_id": "XP_011512073.1",
"transcript_support_level": null,
"aa_start": 584,
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],
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"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
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{
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"BS2"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}