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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: 4-23809024-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=23809024&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 23809024,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000264867.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2019+3723G>C",
"hgvs_p": null,
"transcript": "NM_013261.5",
"protein_id": "NP_037393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": -4,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": "ENST00000264867.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2019+3723G>C",
"hgvs_p": null,
"transcript": "ENST00000264867.7",
"protein_id": "ENSP00000264867.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": -4,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6288,
"mane_select": "NM_013261.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1638+3723G>C",
"hgvs_p": null,
"transcript": "ENST00000613098.4",
"protein_id": "ENSP00000481498.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 671,
"cds_start": -4,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.*1234+3723G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.*3298G>C",
"hgvs_p": null,
"transcript": "XM_011513769.3",
"protein_id": "XP_011512071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.*3298G>C",
"hgvs_p": null,
"transcript": "XM_047449552.1",
"protein_id": "XP_047305508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 675,
"cds_start": -4,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2034+3723G>C",
"hgvs_p": null,
"transcript": "NM_001330751.2",
"protein_id": "NP_001317680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2034+3723G>C",
"hgvs_p": null,
"transcript": "NM_001354825.2",
"protein_id": "NP_001341754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2034+3723G>C",
"hgvs_p": null,
"transcript": "NM_001354827.2",
"protein_id": "NP_001341756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1983+3723G>C",
"hgvs_p": null,
"transcript": "NM_001330752.2",
"protein_id": "NP_001317681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1638+3723G>C",
"hgvs_p": null,
"transcript": "NM_001330753.2",
"protein_id": "NP_001317682.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 15,
"intron_rank": 12,
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"gene_symbol": "PPARGC1A",
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"hgvs_c": "c.1638+3723G>C",
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"transcript": "NM_001354826.2",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 10,
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"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.2059+3723G>C",
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"transcript": "ENST00000509702.5",
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"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 11,
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"gene_symbol": "PPARGC1A",
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"hgvs_c": "n.2622+3723G>C",
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"transcript": "NR_148981.2",
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},
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],
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"gene_symbol": "PPARGC1A",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "PPARGC1A",
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"hgvs_c": "n.2848+3723G>C",
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},
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],
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"gene_symbol": "PPARGC1A",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 12,
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"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "n.2760+3723G>C",
"hgvs_p": null,
"transcript": "NR_148985.2",
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},
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],
"exon_rank": null,
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"gene_symbol": "PPARGC1A",
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},
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],
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},
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],
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"gene_symbol": "PPARGC1A",
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},
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"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.2010+3723G>C",
"hgvs_p": null,
"transcript": "XM_005248132.1",
"protein_id": "XP_005248189.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPARGC1A",
"gene_hgnc_id": 9237,
"hgvs_c": "c.1983+3723G>C",
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"transcript": "XM_047449546.1",
"protein_id": "XP_047305502.1",
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}