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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: 3-49278843-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49278843&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49278843,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003363.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2704G>C",
"hgvs_p": "p.Val902Leu",
"transcript": "NM_003363.4",
"protein_id": "NP_003354.2",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 963,
"cds_start": 2704,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265560.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003363.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2704G>C",
"hgvs_p": "p.Val902Leu",
"transcript": "ENST00000265560.9",
"protein_id": "ENSP00000265560.4",
"transcript_support_level": 1,
"aa_start": 902,
"aa_end": null,
"aa_length": 963,
"cds_start": 2704,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003363.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265560.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2563G>C",
"hgvs_p": "p.Val855Leu",
"transcript": "ENST00000351842.8",
"protein_id": "ENSP00000341028.4",
"transcript_support_level": 1,
"aa_start": 855,
"aa_end": null,
"aa_length": 916,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351842.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2857G>C",
"hgvs_p": "p.Val953Leu",
"transcript": "ENST00000911610.1",
"protein_id": "ENSP00000581669.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911610.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2833G>C",
"hgvs_p": "p.Val945Leu",
"transcript": "ENST00000965332.1",
"protein_id": "ENSP00000635391.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965332.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2815G>C",
"hgvs_p": "p.Val939Leu",
"transcript": "ENST00000965340.1",
"protein_id": "ENSP00000635399.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965340.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2782G>C",
"hgvs_p": "p.Val928Leu",
"transcript": "ENST00000877491.1",
"protein_id": "ENSP00000547550.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 989,
"cds_start": 2782,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877491.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2725G>C",
"hgvs_p": "p.Val909Leu",
"transcript": "ENST00000965341.1",
"protein_id": "ENSP00000635400.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 970,
"cds_start": 2725,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965341.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2716G>C",
"hgvs_p": "p.Val906Leu",
"transcript": "ENST00000911611.1",
"protein_id": "ENSP00000581670.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 967,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911611.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2701G>C",
"hgvs_p": "p.Val901Leu",
"transcript": "ENST00000911612.1",
"protein_id": "ENSP00000581671.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 962,
"cds_start": 2701,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911612.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2701G>C",
"hgvs_p": "p.Val901Leu",
"transcript": "ENST00000965324.1",
"protein_id": "ENSP00000635383.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 962,
"cds_start": 2701,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965324.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2698G>C",
"hgvs_p": "p.Val900Leu",
"transcript": "ENST00000877475.1",
"protein_id": "ENSP00000547534.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 961,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877475.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2671G>C",
"hgvs_p": "p.Val891Leu",
"transcript": "ENST00000877488.1",
"protein_id": "ENSP00000547547.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 952,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877488.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2662G>C",
"hgvs_p": "p.Val888Leu",
"transcript": "ENST00000965327.1",
"protein_id": "ENSP00000635386.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 949,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965327.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2650G>C",
"hgvs_p": "p.Val884Leu",
"transcript": "ENST00000877477.1",
"protein_id": "ENSP00000547536.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 945,
"cds_start": 2650,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877477.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2635G>C",
"hgvs_p": "p.Val879Leu",
"transcript": "ENST00000965330.1",
"protein_id": "ENSP00000635389.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 940,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965330.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2590G>C",
"hgvs_p": "p.Val864Leu",
"transcript": "ENST00000877480.1",
"protein_id": "ENSP00000547539.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 925,
"cds_start": 2590,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877480.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2563G>C",
"hgvs_p": "p.Val855Leu",
"transcript": "NM_199443.3",
"protein_id": "NP_955475.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 916,
"cds_start": 2563,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199443.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2560G>C",
"hgvs_p": "p.Val854Leu",
"transcript": "ENST00000877484.1",
"protein_id": "ENSP00000547543.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 915,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877484.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2557G>C",
"hgvs_p": "p.Val853Leu",
"transcript": "ENST00000877485.1",
"protein_id": "ENSP00000547544.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 914,
"cds_start": 2557,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877485.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2545G>C",
"hgvs_p": "p.Val849Leu",
"transcript": "ENST00000877473.1",
"protein_id": "ENSP00000547532.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 910,
"cds_start": 2545,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877473.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2530G>C",
"hgvs_p": "p.Val844Leu",
"transcript": "ENST00000877492.1",
"protein_id": "ENSP00000547551.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 905,
"cds_start": 2530,
"cds_end": null,
"cds_length": 2718,
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}