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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: 9-2646516-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2646516&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2646516,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003383.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1667G>C",
"hgvs_p": "p.Arg556Pro",
"transcript": "NM_003383.5",
"protein_id": "NP_003374.3",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 873,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382100.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003383.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1667G>C",
"hgvs_p": "p.Arg556Pro",
"transcript": "ENST00000382100.8",
"protein_id": "ENSP00000371532.2",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 873,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003383.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382100.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1223G>C",
"hgvs_p": "p.Arg408Pro",
"transcript": "ENST00000382099.3",
"protein_id": "ENSP00000371531.3",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 725,
"cds_start": 1223,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382099.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1664G>C",
"hgvs_p": "p.Arg555Pro",
"transcript": "ENST00000947327.1",
"protein_id": "ENSP00000617386.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 872,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947327.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1667G>C",
"hgvs_p": "p.Arg556Pro",
"transcript": "ENST00000916502.1",
"protein_id": "ENSP00000586561.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 861,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916502.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1673G>C",
"hgvs_p": "p.Arg558Pro",
"transcript": "ENST00000947328.1",
"protein_id": "ENSP00000617387.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 847,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947328.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1667G>C",
"hgvs_p": "p.Arg556Pro",
"transcript": "NM_001018056.3",
"protein_id": "NP_001018066.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 845,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018056.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1667G>C",
"hgvs_p": "p.Arg556Pro",
"transcript": "ENST00000681306.1",
"protein_id": "ENSP00000506072.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 845,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681306.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1547G>C",
"hgvs_p": "p.Arg516Pro",
"transcript": "ENST00000947330.1",
"protein_id": "ENSP00000617389.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 833,
"cds_start": 1547,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947330.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1544G>C",
"hgvs_p": "p.Arg515Pro",
"transcript": "NM_001322225.2",
"protein_id": "NP_001309154.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 832,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322225.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1544G>C",
"hgvs_p": "p.Arg515Pro",
"transcript": "ENST00000680746.1",
"protein_id": "ENSP00000505030.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 832,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680746.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1667G>C",
"hgvs_p": "p.Arg556Pro",
"transcript": "ENST00000947329.1",
"protein_id": "ENSP00000617388.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 820,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947329.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1544G>C",
"hgvs_p": "p.Arg515Pro",
"transcript": "NM_001322226.2",
"protein_id": "NP_001309155.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 804,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322226.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1544G>C",
"hgvs_p": "p.Arg515Pro",
"transcript": "ENST00000681618.1",
"protein_id": "ENSP00000505773.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 804,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681618.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Pro",
"transcript": "ENST00000680219.1",
"protein_id": "ENSP00000506614.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 604,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680219.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Arg364Pro",
"transcript": "ENST00000680296.1",
"protein_id": "ENSP00000506448.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 557,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.*105G>C",
"hgvs_p": null,
"transcript": "XM_047423848.1",
"protein_id": "XP_047279804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1484+771G>C",
"hgvs_p": null,
"transcript": "ENST00000916501.1",
"protein_id": "ENSP00000586560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1112G>C",
"hgvs_p": null,
"transcript": "ENST00000478776.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000478776.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.903G>C",
"hgvs_p": null,
"transcript": "ENST00000679718.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000679718.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1083G>C",
"hgvs_p": null,
"transcript": "ENST00000679750.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000679750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1851G>C",
"hgvs_p": null,
"transcript": "ENST00000679851.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000679851.1"
},
{
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}