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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: 4-23795917-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=23795917&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 23795917,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001330751.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2302T>C",
"hgvs_p": "p.Ser768Pro",
"transcript": "NM_013261.5",
"protein_id": "NP_037393.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 798,
"cds_start": 2302,
"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": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2302T>C",
"hgvs_p": "p.Ser768Pro",
"transcript": "ENST00000264867.7",
"protein_id": "ENSP00000264867.2",
"transcript_support_level": 1,
"aa_start": 768,
"aa_end": null,
"aa_length": 798,
"cds_start": 2302,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1921T>C",
"hgvs_p": "p.Ser641Pro",
"transcript": "ENST00000613098.4",
"protein_id": "ENSP00000481498.1",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 671,
"cds_start": 1921,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.*1517T>C",
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.*1517T>C",
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2347T>C",
"hgvs_p": "p.Ser783Pro",
"transcript": "ENST00000907769.1",
"protein_id": "ENSP00000577828.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 813,
"cds_start": 2347,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2317T>C",
"hgvs_p": "p.Ser773Pro",
"transcript": "NM_001330751.2",
"protein_id": "NP_001317680.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 803,
"cds_start": 2317,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2317T>C",
"hgvs_p": "p.Ser773Pro",
"transcript": "NM_001354825.2",
"protein_id": "NP_001341754.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 803,
"cds_start": 2317,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2311T>C",
"hgvs_p": "p.Ser771Pro",
"transcript": "NM_001354827.2",
"protein_id": "NP_001341756.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 801,
"cds_start": 2311,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "NM_001330752.2",
"protein_id": "NP_001317681.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 786,
"cds_start": 2266,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2179T>C",
"hgvs_p": "p.Ser727Pro",
"transcript": "ENST00000907771.1",
"protein_id": "ENSP00000577830.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 757,
"cds_start": 2179,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1921T>C",
"hgvs_p": "p.Ser641Pro",
"transcript": "NM_001330753.2",
"protein_id": "NP_001317682.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 671,
"cds_start": 1921,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1921T>C",
"hgvs_p": "p.Ser641Pro",
"transcript": "NM_001354826.2",
"protein_id": "NP_001341755.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 671,
"cds_start": 1921,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Ser296Pro",
"transcript": "ENST00000907770.1",
"protein_id": "ENSP00000577829.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 326,
"cds_start": 886,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907770.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2314T>C",
"hgvs_p": "p.Ser772Pro",
"transcript": "XM_005248131.6",
"protein_id": "XP_005248188.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 802,
"cds_start": 2314,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2293T>C",
"hgvs_p": "p.Ser765Pro",
"transcript": "XM_005248132.1",
"protein_id": "XP_005248189.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 795,
"cds_start": 2293,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "XM_047449546.1",
"protein_id": "XP_047305502.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 786,
"cds_start": 2266,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2197T>C",
"hgvs_p": "p.Ser733Pro",
"transcript": "XM_011513768.2",
"protein_id": "XP_011512070.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 763,
"cds_start": 2197,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2197T>C",
"hgvs_p": "p.Ser733Pro",
"transcript": "XM_047449547.1",
"protein_id": "XP_047305503.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 763,
"cds_start": 2197,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2197T>C",
"hgvs_p": "p.Ser733Pro",
"transcript": "XM_047449548.1",
"protein_id": "XP_047305504.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 763,
"cds_start": 2197,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2197T>C",
"hgvs_p": "p.Ser733Pro",
"transcript": "XM_047449549.1",
"protein_id": "XP_047305505.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 763,
"cds_start": 2197,
"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": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2197T>C",
"hgvs_p": "p.Ser733Pro",
"transcript": "XM_047449550.1",
"protein_id": "XP_047305506.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 763,
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}
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}