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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: 3-49808060-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49808060&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49808060,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003335.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2483G>A",
"hgvs_p": "p.Arg828Lys",
"transcript": "NM_003335.3",
"protein_id": "NP_003326.2",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2483,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333486.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003335.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2483G>A",
"hgvs_p": "p.Arg828Lys",
"transcript": "ENST00000333486.4",
"protein_id": "ENSP00000333266.3",
"transcript_support_level": 1,
"aa_start": 828,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2483,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003335.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333486.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833Lys",
"transcript": "ENST00000905619.1",
"protein_id": "ENSP00000575678.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2498,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905619.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2483G>A",
"hgvs_p": "p.Arg828Lys",
"transcript": "ENST00000905599.1",
"protein_id": "ENSP00000575658.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2483,
"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": "ENST00000905599.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2480G>A",
"hgvs_p": "p.Arg827Lys",
"transcript": "ENST00000905613.1",
"protein_id": "ENSP00000575672.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2480,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905613.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2474G>A",
"hgvs_p": "p.Arg825Lys",
"transcript": "ENST00000905614.1",
"protein_id": "ENSP00000575673.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2474,
"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": "ENST00000905614.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2465G>A",
"hgvs_p": "p.Arg822Lys",
"transcript": "ENST00000942947.1",
"protein_id": "ENSP00000613006.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2465,
"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": "ENST00000942947.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2450G>A",
"hgvs_p": "p.Arg817Lys",
"transcript": "ENST00000905609.1",
"protein_id": "ENSP00000575668.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2450,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905609.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2432G>A",
"hgvs_p": "p.Arg811Lys",
"transcript": "ENST00000942954.1",
"protein_id": "ENSP00000613013.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 995,
"cds_start": 2432,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942954.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2426G>A",
"hgvs_p": "p.Arg809Lys",
"transcript": "ENST00000905605.1",
"protein_id": "ENSP00000575664.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 993,
"cds_start": 2426,
"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": "ENST00000905605.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2423G>A",
"hgvs_p": "p.Arg808Lys",
"transcript": "ENST00000905607.1",
"protein_id": "ENSP00000575666.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 992,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905607.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2417G>A",
"hgvs_p": "p.Arg806Lys",
"transcript": "ENST00000942951.1",
"protein_id": "ENSP00000613010.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 990,
"cds_start": 2417,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942951.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2408G>A",
"hgvs_p": "p.Arg803Lys",
"transcript": "ENST00000905603.1",
"protein_id": "ENSP00000575662.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 987,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905603.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2405G>A",
"hgvs_p": "p.Arg802Lys",
"transcript": "ENST00000942955.1",
"protein_id": "ENSP00000613014.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 986,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942955.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2408G>A",
"hgvs_p": "p.Arg803Lys",
"transcript": "ENST00000905600.1",
"protein_id": "ENSP00000575659.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 985,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905600.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2402G>A",
"hgvs_p": "p.Arg801Lys",
"transcript": "ENST00000905616.1",
"protein_id": "ENSP00000575675.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 985,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905616.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2483G>A",
"hgvs_p": "p.Arg828Lys",
"transcript": "ENST00000905618.1",
"protein_id": "ENSP00000575677.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 978,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905618.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Lys",
"transcript": "ENST00000942948.1",
"protein_id": "ENSP00000613007.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 975,
"cds_start": 2372,
"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": "ENST00000942948.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2354G>A",
"hgvs_p": "p.Arg785Lys",
"transcript": "ENST00000905608.1",
"protein_id": "ENSP00000575667.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 969,
"cds_start": 2354,
"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": "ENST00000905608.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2351G>A",
"hgvs_p": "p.Arg784Lys",
"transcript": "ENST00000905615.1",
"protein_id": "ENSP00000575674.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 968,
"cds_start": 2351,
"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": "ENST00000905615.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2345G>A",
"hgvs_p": "p.Arg782Lys",
"transcript": "ENST00000942950.1",
"protein_id": "ENSP00000613009.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 966,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942950.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2327G>A",
"hgvs_p": "p.Arg776Lys",
"transcript": "ENST00000905604.1",
"protein_id": "ENSP00000575663.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 960,
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"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.17,
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{
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"criteria": [
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"PP3_Moderate"
],
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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
}