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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: 1-21690003-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=21690003&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 21690003,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032236.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2980G>A",
"hgvs_p": "p.Val994Ile",
"transcript": "NM_032236.8",
"protein_id": "NP_115612.4",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2980,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308271.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032236.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2980G>A",
"hgvs_p": "p.Val994Ile",
"transcript": "ENST00000308271.14",
"protein_id": "ENSP00000309262.9",
"transcript_support_level": 1,
"aa_start": 994,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2980,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032236.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308271.14"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.3016G>A",
"hgvs_p": "p.Val1006Ile",
"transcript": "ENST00000529637.5",
"protein_id": "ENSP00000431949.1",
"transcript_support_level": 1,
"aa_start": 1006,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3016,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529637.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2824G>A",
"hgvs_p": "p.Val942Ile",
"transcript": "ENST00000400301.5",
"protein_id": "ENSP00000383157.1",
"transcript_support_level": 1,
"aa_start": 942,
"aa_end": null,
"aa_length": 983,
"cds_start": 2824,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400301.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2983G>A",
"hgvs_p": "p.Val995Ile",
"transcript": "ENST00000903051.1",
"protein_id": "ENSP00000573110.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903051.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2977G>A",
"hgvs_p": "p.Val993Ile",
"transcript": "NM_001350167.2",
"protein_id": "NP_001337096.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350167.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2977G>A",
"hgvs_p": "p.Val993Ile",
"transcript": "NM_001350168.2",
"protein_id": "NP_001337097.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350168.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2977G>A",
"hgvs_p": "p.Val993Ile",
"transcript": "ENST00000903043.1",
"protein_id": "ENSP00000573102.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903043.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2977G>A",
"hgvs_p": "p.Val993Ile",
"transcript": "ENST00000903045.1",
"protein_id": "ENSP00000573104.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1034,
"cds_start": 2977,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903045.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2974G>A",
"hgvs_p": "p.Val992Ile",
"transcript": "NM_001350166.2",
"protein_id": "NP_001337095.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350166.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2974G>A",
"hgvs_p": "p.Val992Ile",
"transcript": "ENST00000903046.1",
"protein_id": "ENSP00000573105.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903046.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2911G>A",
"hgvs_p": "p.Val971Ile",
"transcript": "ENST00000963813.1",
"protein_id": "ENSP00000633872.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2911,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963813.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2902G>A",
"hgvs_p": "p.Val968Ile",
"transcript": "ENST00000963818.1",
"protein_id": "ENSP00000633877.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963818.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2857G>A",
"hgvs_p": "p.Val953Ile",
"transcript": "ENST00000922671.1",
"protein_id": "ENSP00000592730.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 994,
"cds_start": 2857,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922671.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Ile",
"transcript": "ENST00000903050.1",
"protein_id": "ENSP00000573109.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 993,
"cds_start": 2854,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903050.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2824G>A",
"hgvs_p": "p.Val942Ile",
"transcript": "NM_001330394.3",
"protein_id": "NP_001317323.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 983,
"cds_start": 2824,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330394.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2821G>A",
"hgvs_p": "p.Val941Ile",
"transcript": "ENST00000903044.1",
"protein_id": "ENSP00000573103.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 982,
"cds_start": 2821,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903044.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2821G>A",
"hgvs_p": "p.Val941Ile",
"transcript": "ENST00000963814.1",
"protein_id": "ENSP00000633873.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 982,
"cds_start": 2821,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963814.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2800G>A",
"hgvs_p": "p.Val934Ile",
"transcript": "ENST00000903049.1",
"protein_id": "ENSP00000573108.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 975,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903049.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2782G>A",
"hgvs_p": "p.Val928Ile",
"transcript": "ENST00000903048.1",
"protein_id": "ENSP00000573107.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 969,
"cds_start": 2782,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903048.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2779G>A",
"hgvs_p": "p.Val927Ile",
"transcript": "NM_001350164.2",
"protein_id": "NP_001337093.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 968,
"cds_start": 2779,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350164.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP48",
"gene_hgnc_id": 18533,
"hgvs_c": "c.2779G>A",
"hgvs_p": "p.Val927Ile",
"transcript": "ENST00000922670.1",
"protein_id": "ENSP00000592729.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 968,
"cds_start": 2779,
"cds_end": null,
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