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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: 3-183840614-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183840614&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183840614,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018622.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Val262Leu",
"transcript": "NM_018622.7",
"protein_id": "NP_061092.3",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 379,
"cds_start": 784,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317096.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018622.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Val262Leu",
"transcript": "ENST00000317096.9",
"protein_id": "ENSP00000325421.5",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 379,
"cds_start": 784,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018622.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317096.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283765",
"gene_hgnc_id": null,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Val262Leu",
"transcript": "ENST00000639401.1",
"protein_id": "ENSP00000491227.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 408,
"cds_start": 784,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639401.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "ENST00000311101.9",
"protein_id": "ENSP00000310676.5",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 329,
"cds_start": 634,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311101.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Val262Leu",
"transcript": "ENST00000870312.1",
"protein_id": "ENSP00000540371.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 389,
"cds_start": 784,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870312.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Val230Leu",
"transcript": "ENST00000870311.1",
"protein_id": "ENSP00000540370.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 347,
"cds_start": 688,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870311.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Val262Leu",
"transcript": "NM_001324436.2",
"protein_id": "NP_001311365.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 345,
"cds_start": 784,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324436.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "ENST00000931665.1",
"protein_id": "ENSP00000601724.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 339,
"cds_start": 634,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931665.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001037639.3",
"protein_id": "NP_001032728.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 329,
"cds_start": 634,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037639.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.625G>C",
"hgvs_p": "p.Val209Leu",
"transcript": "ENST00000931664.1",
"protein_id": "ENSP00000601723.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 326,
"cds_start": 625,
"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": "ENST00000931664.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.538G>C",
"hgvs_p": "p.Val180Leu",
"transcript": "ENST00000931666.1",
"protein_id": "ENSP00000601725.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 297,
"cds_start": 538,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931666.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "NM_001324437.2",
"protein_id": "NP_001311366.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 295,
"cds_start": 634,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324437.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "ENST00000435888.5",
"protein_id": "ENSP00000402137.1",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 295,
"cds_start": 634,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435888.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Val262Leu",
"transcript": "NM_001324438.2",
"protein_id": "NP_001311367.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 283,
"cds_start": 784,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324438.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.211G>C",
"hgvs_p": "p.Val71Leu",
"transcript": "ENST00000639100.1",
"protein_id": "ENSP00000491186.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 188,
"cds_start": 211,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639100.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.157G>C",
"hgvs_p": "p.Val53Leu",
"transcript": "ENST00000417784.5",
"protein_id": "ENSP00000398043.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 170,
"cds_start": 157,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417784.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.373G>C",
"hgvs_p": "p.Val125Leu",
"transcript": "ENST00000449306.1",
"protein_id": "ENSP00000396691.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 157,
"cds_start": 373,
"cds_end": null,
"cds_length": 475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449306.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000418450.5",
"protein_id": "ENSP00000392926.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 111,
"cds_start": 82,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418450.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Val42Leu",
"transcript": "ENST00000450375.5",
"protein_id": "ENSP00000402689.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 63,
"cds_start": 124,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450375.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Val262Leu",
"transcript": "XM_005247582.6",
"protein_id": "XP_005247639.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 394,
"cds_start": 784,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247582.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Val262Leu",
"transcript": "XM_017006800.3",
"protein_id": "XP_016862289.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 360,
"cds_start": 784,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006800.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.634G>C",
"hgvs_p": "p.Val212Leu",
"transcript": "XM_017006801.2",
"protein_id": "XP_016862290.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 344,
"cds_start": 634,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006801.2"
},
{
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}