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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: 4-23812840-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=23812840&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 23812840,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001330751.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.His642His",
"transcript": "NM_013261.5",
"protein_id": "NP_037393.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 798,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": "ENST00000264867.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013261.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.His642His",
"transcript": "ENST00000264867.7",
"protein_id": "ENSP00000264867.2",
"transcript_support_level": 1,
"aa_start": 642,
"aa_end": null,
"aa_length": 798,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": "NM_013261.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264867.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1545C>T",
"hgvs_p": "p.His515His",
"transcript": "ENST00000613098.4",
"protein_id": "ENSP00000481498.1",
"transcript_support_level": 1,
"aa_start": 515,
"aa_end": null,
"aa_length": 671,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 3210,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.*1141C>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": 2627,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.*1141C>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": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506055.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1971C>T",
"hgvs_p": "p.His657His",
"transcript": "ENST00000907769.1",
"protein_id": "ENSP00000577828.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 813,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907769.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.His647His",
"transcript": "NM_001330751.2",
"protein_id": "NP_001317680.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 803,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 6908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330751.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.His647His",
"transcript": "NM_001354825.2",
"protein_id": "NP_001341754.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 803,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 6843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354825.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.His647His",
"transcript": "NM_001354827.2",
"protein_id": "NP_001341756.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 801,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354827.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1890C>T",
"hgvs_p": "p.His630His",
"transcript": "NM_001330752.2",
"protein_id": "NP_001317681.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 786,
"cds_start": 1890,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 6740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330752.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1803C>T",
"hgvs_p": "p.His601His",
"transcript": "ENST00000907771.1",
"protein_id": "ENSP00000577830.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 757,
"cds_start": 1803,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907771.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1545C>T",
"hgvs_p": "p.His515His",
"transcript": "NM_001330753.2",
"protein_id": "NP_001317682.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 671,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330753.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1545C>T",
"hgvs_p": "p.His515His",
"transcript": "NM_001354826.2",
"protein_id": "NP_001341755.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 671,
"cds_start": 1545,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 6844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354826.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1938C>T",
"hgvs_p": "p.His646His",
"transcript": "XM_005248131.6",
"protein_id": "XP_005248188.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 802,
"cds_start": 1938,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248131.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1917C>T",
"hgvs_p": "p.His639His",
"transcript": "XM_005248132.1",
"protein_id": "XP_005248189.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 795,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248132.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1890C>T",
"hgvs_p": "p.His630His",
"transcript": "XM_047449546.1",
"protein_id": "XP_047305502.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 786,
"cds_start": 1890,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 6252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449546.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.His607His",
"transcript": "XM_011513768.2",
"protein_id": "XP_011512070.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 763,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513768.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.His607His",
"transcript": "XM_047449547.1",
"protein_id": "XP_047305503.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 763,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 6489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449547.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.His607His",
"transcript": "XM_047449548.1",
"protein_id": "XP_047305504.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 763,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 6298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449548.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.His607His",
"transcript": "XM_047449549.1",
"protein_id": "XP_047305505.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 763,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 7421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449549.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.His607His",
"transcript": "XM_047449550.1",
"protein_id": "XP_047305506.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 763,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 6353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449550.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1941C>T",
"hgvs_p": "p.His647His",
"transcript": "XM_005248134.5",
"protein_id": "XP_005248191.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 702,
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"phenotype_combined": "PPARGC1A-related disorder",
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"custom_annotations": null
}
],
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}