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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: 4-119504547-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=119504547&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 119504547,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001083.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.2320A>G",
"hgvs_p": "p.Ile774Val",
"transcript": "NM_001083.4",
"protein_id": "NP_001074.2",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 875,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 6959,
"mane_select": "ENST00000354960.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.2320A>G",
"hgvs_p": "p.Ile774Val",
"transcript": "ENST00000354960.8",
"protein_id": "ENSP00000347046.3",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 875,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 6959,
"mane_select": "NM_001083.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354960.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Ile732Val",
"transcript": "ENST00000264805.9",
"protein_id": "ENSP00000264805.5",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 833,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264805.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.2317A>G",
"hgvs_p": "p.Ile773Val",
"transcript": "ENST00000925607.1",
"protein_id": "ENSP00000595666.1",
"transcript_support_level": null,
"aa_start": 773,
"aa_end": null,
"aa_length": 874,
"cds_start": 2317,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925607.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.2194A>G",
"hgvs_p": "p.Ile732Val",
"transcript": "NM_033430.3",
"protein_id": "NP_236914.2",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 833,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 7262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033430.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.2173A>G",
"hgvs_p": "p.Ile725Val",
"transcript": "ENST00000925608.1",
"protein_id": "ENSP00000595667.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 826,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925608.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.2164A>G",
"hgvs_p": "p.Ile722Val",
"transcript": "NM_033437.4",
"protein_id": "NP_246273.2",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 823,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 6720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033437.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.2164A>G",
"hgvs_p": "p.Ile722Val",
"transcript": "ENST00000394439.5",
"protein_id": "ENSP00000377957.1",
"transcript_support_level": 5,
"aa_start": 722,
"aa_end": null,
"aa_length": 823,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 6770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394439.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.373A>G",
"hgvs_p": "p.Ile125Val",
"transcript": "ENST00000503412.1",
"protein_id": "ENSP00000425810.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 184,
"cds_start": 373,
"cds_end": null,
"cds_length": 555,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "n.134A>G",
"hgvs_p": null,
"transcript": "ENST00000512494.1",
"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": 411,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512494.1"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.364+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000498873.5",
"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": 981,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498873.5"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.932-7804T>C",
"hgvs_p": null,
"transcript": "ENST00000508519.6",
"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": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508519.6"
},
{
"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,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.191+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000510844.5",
"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": 541,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000510844.5"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1046+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000685525.2",
"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": 1476,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000685525.2"
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.953+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000685974.2",
"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": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000685974.2"
},
{
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.911-7804T>C",
"hgvs_p": null,
"transcript": "ENST00000686202.2",
"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": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000686202.2"
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1018+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000688315.2",
"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": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000688315.2"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1007+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000688480.2",
"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": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000688480.2"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.997+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000690731.2",
"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": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000690731.2"
},
{
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.939+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000692409.1",
"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": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692409.1"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1037+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000692642.2",
"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": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692642.2"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.984+6644T>C",
"hgvs_p": null,
"transcript": "ENST00000692945.1",
"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": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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}