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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: 3-49807819-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49807819&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49807819,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003335.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2632C>G",
"hgvs_p": "p.Arg878Gly",
"transcript": "NM_003335.3",
"protein_id": "NP_003326.2",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2632,
"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": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2632C>G",
"hgvs_p": "p.Arg878Gly",
"transcript": "ENST00000333486.4",
"protein_id": "ENSP00000333266.3",
"transcript_support_level": 1,
"aa_start": 878,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2632,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2647C>G",
"hgvs_p": "p.Arg883Gly",
"transcript": "ENST00000905619.1",
"protein_id": "ENSP00000575678.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2647,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2632C>G",
"hgvs_p": "p.Arg878Gly",
"transcript": "ENST00000905599.1",
"protein_id": "ENSP00000575658.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2632,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2629C>G",
"hgvs_p": "p.Arg877Gly",
"transcript": "ENST00000905613.1",
"protein_id": "ENSP00000575672.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2629,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2623C>G",
"hgvs_p": "p.Arg875Gly",
"transcript": "ENST00000905614.1",
"protein_id": "ENSP00000575673.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2623,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2614C>G",
"hgvs_p": "p.Arg872Gly",
"transcript": "ENST00000942947.1",
"protein_id": "ENSP00000613006.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2614,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2599C>G",
"hgvs_p": "p.Arg867Gly",
"transcript": "ENST00000905609.1",
"protein_id": "ENSP00000575668.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2599,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2581C>G",
"hgvs_p": "p.Arg861Gly",
"transcript": "ENST00000942954.1",
"protein_id": "ENSP00000613013.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 995,
"cds_start": 2581,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2575C>G",
"hgvs_p": "p.Arg859Gly",
"transcript": "ENST00000905605.1",
"protein_id": "ENSP00000575664.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 993,
"cds_start": 2575,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2572C>G",
"hgvs_p": "p.Arg858Gly",
"transcript": "ENST00000905607.1",
"protein_id": "ENSP00000575666.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 992,
"cds_start": 2572,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2566C>G",
"hgvs_p": "p.Arg856Gly",
"transcript": "ENST00000942951.1",
"protein_id": "ENSP00000613010.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 990,
"cds_start": 2566,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2557C>G",
"hgvs_p": "p.Arg853Gly",
"transcript": "ENST00000905603.1",
"protein_id": "ENSP00000575662.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 987,
"cds_start": 2557,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2554C>G",
"hgvs_p": "p.Arg852Gly",
"transcript": "ENST00000942955.1",
"protein_id": "ENSP00000613014.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 986,
"cds_start": 2554,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2557C>G",
"hgvs_p": "p.Arg853Gly",
"transcript": "ENST00000905600.1",
"protein_id": "ENSP00000575659.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 985,
"cds_start": 2557,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2551C>G",
"hgvs_p": "p.Arg851Gly",
"transcript": "ENST00000905616.1",
"protein_id": "ENSP00000575675.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 985,
"cds_start": 2551,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2521C>G",
"hgvs_p": "p.Arg841Gly",
"transcript": "ENST00000942948.1",
"protein_id": "ENSP00000613007.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 975,
"cds_start": 2521,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2503C>G",
"hgvs_p": "p.Arg835Gly",
"transcript": "ENST00000905608.1",
"protein_id": "ENSP00000575667.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 969,
"cds_start": 2503,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2500C>G",
"hgvs_p": "p.Arg834Gly",
"transcript": "ENST00000905615.1",
"protein_id": "ENSP00000575674.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 968,
"cds_start": 2500,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2494C>G",
"hgvs_p": "p.Arg832Gly",
"transcript": "ENST00000942950.1",
"protein_id": "ENSP00000613009.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 966,
"cds_start": 2494,
"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": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2476C>G",
"hgvs_p": "p.Arg826Gly",
"transcript": "ENST00000905604.1",
"protein_id": "ENSP00000575663.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 960,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905604.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2461C>G",
"hgvs_p": "p.Arg821Gly",
"transcript": "ENST00000942953.1",
"protein_id": "ENSP00000613012.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 955,
"cds_start": 2461,
"cds_end": null,
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}