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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: 3-12433979-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12433979&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12433979,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000651735.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "NM_138711.6",
"protein_id": "NP_619725.3",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": "ENST00000651735.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000651735.1",
"protein_id": "ENSP00000498313.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": "NM_138711.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Leu451Pro",
"transcript": "ENST00000287820.10",
"protein_id": "ENSP00000287820.6",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 505,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000397010.7",
"protein_id": "ENSP00000380205.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000397015.7",
"protein_id": "ENSP00000380210.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.*64T>C",
"hgvs_p": null,
"transcript": "ENST00000397000.6",
"protein_id": "ENSP00000380196.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Leu451Pro",
"transcript": "NM_015869.5",
"protein_id": "NP_056953.2",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 505,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "NM_001354666.3",
"protein_id": "NP_001341595.2",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "NM_001354667.3",
"protein_id": "NP_001341596.2",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "NM_001374263.2",
"protein_id": "NP_001361192.2",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "NM_001374264.2",
"protein_id": "NP_001361193.2",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "NM_005037.7",
"protein_id": "NP_005028.5",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "NM_138712.5",
"protein_id": "NP_619726.3",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000309576.11",
"protein_id": "ENSP00000312472.7",
"transcript_support_level": 2,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
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"cdna_start": 1505,
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"cdna_length": 1870,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000397026.7",
"protein_id": "ENSP00000380221.3",
"transcript_support_level": 5,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000643197.2",
"protein_id": "ENSP00000495840.2",
"transcript_support_level": null,
"aa_start": 421,
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"cds_start": 1262,
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"cdna_start": 1711,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000643888.2",
"protein_id": "ENSP00000494934.2",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
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"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000644622.2",
"protein_id": "ENSP00000494873.2",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
"cds_end": null,
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"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 1962,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000681982.1",
"protein_id": "ENSP00000508065.1",
"transcript_support_level": null,
"aa_start": 421,
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"aa_length": 475,
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"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000682446.1",
"protein_id": "ENSP00000506813.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
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"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Leu421Pro",
"transcript": "ENST00000683586.1",
"protein_id": "ENSP00000507893.1",
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"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1262,
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"cdna_start": 2124,
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"cdna_length": 2489,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.950T>C",
"hgvs_p": "p.Leu317Pro",
"transcript": "ENST00000652431.1",
"protein_id": "ENSP00000498717.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 371,
"cds_start": 950,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPARG",
"gene_hgnc_id": 9236,
"hgvs_c": "c.716T>C",
"hgvs_p": "p.Leu239Pro",
"transcript": "ENST00000652098.1",
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}