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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: 3-49284475-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49284475&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49284475,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003363.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2381A>G",
"hgvs_p": "p.His794Arg",
"transcript": "NM_003363.4",
"protein_id": "NP_003354.2",
"transcript_support_level": null,
"aa_start": 794,
"aa_end": null,
"aa_length": 963,
"cds_start": 2381,
"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": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2381A>G",
"hgvs_p": "p.His794Arg",
"transcript": "ENST00000265560.9",
"protein_id": "ENSP00000265560.4",
"transcript_support_level": 1,
"aa_start": 794,
"aa_end": null,
"aa_length": 963,
"cds_start": 2381,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2240A>G",
"hgvs_p": "p.His747Arg",
"transcript": "ENST00000351842.8",
"protein_id": "ENSP00000341028.4",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 916,
"cds_start": 2240,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2534A>G",
"hgvs_p": "p.His845Arg",
"transcript": "ENST00000911610.1",
"protein_id": "ENSP00000581669.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2534,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2510A>G",
"hgvs_p": "p.His837Arg",
"transcript": "ENST00000965332.1",
"protein_id": "ENSP00000635391.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2510,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2492A>G",
"hgvs_p": "p.His831Arg",
"transcript": "ENST00000965340.1",
"protein_id": "ENSP00000635399.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2492,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2459A>G",
"hgvs_p": "p.His820Arg",
"transcript": "ENST00000877491.1",
"protein_id": "ENSP00000547550.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 989,
"cds_start": 2459,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2402A>G",
"hgvs_p": "p.His801Arg",
"transcript": "ENST00000965341.1",
"protein_id": "ENSP00000635400.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 970,
"cds_start": 2402,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2393A>G",
"hgvs_p": "p.His798Arg",
"transcript": "ENST00000911611.1",
"protein_id": "ENSP00000581670.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 967,
"cds_start": 2393,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2378A>G",
"hgvs_p": "p.His793Arg",
"transcript": "ENST00000911612.1",
"protein_id": "ENSP00000581671.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 962,
"cds_start": 2378,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2378A>G",
"hgvs_p": "p.His793Arg",
"transcript": "ENST00000965324.1",
"protein_id": "ENSP00000635383.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 962,
"cds_start": 2378,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2375A>G",
"hgvs_p": "p.His792Arg",
"transcript": "ENST00000877475.1",
"protein_id": "ENSP00000547534.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 961,
"cds_start": 2375,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2348A>G",
"hgvs_p": "p.His783Arg",
"transcript": "ENST00000877488.1",
"protein_id": "ENSP00000547547.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 952,
"cds_start": 2348,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2339A>G",
"hgvs_p": "p.His780Arg",
"transcript": "ENST00000965327.1",
"protein_id": "ENSP00000635386.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 949,
"cds_start": 2339,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.His776Arg",
"transcript": "ENST00000877477.1",
"protein_id": "ENSP00000547536.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 945,
"cds_start": 2327,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2312A>G",
"hgvs_p": "p.His771Arg",
"transcript": "ENST00000965330.1",
"protein_id": "ENSP00000635389.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 940,
"cds_start": 2312,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2267A>G",
"hgvs_p": "p.His756Arg",
"transcript": "ENST00000877480.1",
"protein_id": "ENSP00000547539.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 925,
"cds_start": 2267,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2240A>G",
"hgvs_p": "p.His747Arg",
"transcript": "NM_199443.3",
"protein_id": "NP_955475.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 916,
"cds_start": 2240,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2237A>G",
"hgvs_p": "p.His746Arg",
"transcript": "ENST00000877484.1",
"protein_id": "ENSP00000547543.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 915,
"cds_start": 2237,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2234A>G",
"hgvs_p": "p.His745Arg",
"transcript": "ENST00000877485.1",
"protein_id": "ENSP00000547544.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 914,
"cds_start": 2234,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877485.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2222A>G",
"hgvs_p": "p.His741Arg",
"transcript": "ENST00000877473.1",
"protein_id": "ENSP00000547532.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 910,
"cds_start": 2222,
"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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP4",
"gene_hgnc_id": 12627,
"hgvs_c": "c.2207A>G",
"hgvs_p": "p.His736Arg",
"transcript": "ENST00000877492.1",
"protein_id": "ENSP00000547551.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 905,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
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{
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{
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{
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{
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{
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{
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{
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],
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{
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],
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"biotype": "pseudogene",
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],
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"dbsnp": "rs2047073294",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.261814147233963,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.09,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003363.4",
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"effects": [
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}