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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: 1-95244265-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=95244265&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 95244265,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015485.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_015485.5",
"protein_id": "NP_056300.3",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 267,
"cds_start": 140,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370202.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015485.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000370202.5",
"protein_id": "ENSP00000359221.4",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 267,
"cds_start": 140,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015485.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370202.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000263893.10",
"protein_id": "ENSP00000263893.6",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 195,
"cds_start": 140,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263893.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4-RWDD3",
"gene_hgnc_id": 49388,
"hgvs_c": "c.*15T>C",
"hgvs_p": null,
"transcript": "ENST00000604534.5",
"protein_id": "ENSP00000475025.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604534.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Val86Ala",
"transcript": "ENST00000930354.1",
"protein_id": "ENSP00000600413.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 306,
"cds_start": 257,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930354.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000930352.1",
"protein_id": "ENSP00000600411.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 266,
"cds_start": 140,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930352.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.134T>C",
"hgvs_p": "p.Val45Ala",
"transcript": "ENST00000885950.1",
"protein_id": "ENSP00000556009.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 265,
"cds_start": 134,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885950.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "ENST00000930355.1",
"protein_id": "ENSP00000600414.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 261,
"cds_start": 140,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930355.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Val32Ala",
"transcript": "NM_001278248.2",
"protein_id": "NP_001265177.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 252,
"cds_start": 95,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278248.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001199682.2",
"protein_id": "NP_001186611.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 200,
"cds_start": 140,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199682.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.140T>C",
"hgvs_p": "p.Val47Ala",
"transcript": "NM_001128142.2",
"protein_id": "NP_001121614.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 195,
"cds_start": 140,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128142.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.95T>C",
"hgvs_p": "p.Val32Ala",
"transcript": "NM_001278247.2",
"protein_id": "NP_001265176.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 185,
"cds_start": 95,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278247.2"
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.124T>C",
"hgvs_p": "p.Trp42Arg",
"transcript": "ENST00000930351.1",
"protein_id": "ENSP00000600410.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 137,
"cds_start": 124,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD4-RWDD3",
"gene_hgnc_id": 49388,
"hgvs_c": "c.*15T>C",
"hgvs_p": null,
"transcript": "NM_001199691.1",
"protein_id": "NP_001186620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199691.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.86-300T>C",
"hgvs_p": null,
"transcript": "ENST00000930353.1",
"protein_id": "ENSP00000600412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": null,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930353.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TLCD4-RWDD3",
"gene_hgnc_id": 49388,
"hgvs_c": "c.210-2491T>C",
"hgvs_p": null,
"transcript": "ENST00000604203.1",
"protein_id": "ENSP00000474793.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604203.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "c.70-2277T>C",
"hgvs_p": null,
"transcript": "ENST00000885951.1",
"protein_id": "ENSP00000556010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "n.403T>C",
"hgvs_p": null,
"transcript": "ENST00000492639.5",
"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": "pseudogene",
"feature": "ENST00000492639.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "n.283T>C",
"hgvs_p": null,
"transcript": "ENST00000495272.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000495272.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "n.161T>C",
"hgvs_p": null,
"transcript": "NR_103483.2",
"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": "pseudogene",
"feature": "NR_103483.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228852",
"gene_hgnc_id": null,
"hgvs_c": "n.71-740A>G",
"hgvs_p": null,
"transcript": "ENST00000444665.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000444665.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RWDD3",
"gene_hgnc_id": 21393,
"hgvs_c": "n.49-2491T>C",
"hgvs_p": null,
"transcript": "ENST00000473397.1",
"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": "pseudogene",
"feature": "ENST00000473397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
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{
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{
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}
],
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}