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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: 3-49805385-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49805385&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49805385,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003335.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2962C>T",
"hgvs_p": "p.Arg988Trp",
"transcript": "NM_003335.3",
"protein_id": "NP_003326.2",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2962,
"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": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2962C>T",
"hgvs_p": "p.Arg988Trp",
"transcript": "ENST00000333486.4",
"protein_id": "ENSP00000333266.3",
"transcript_support_level": 1,
"aa_start": 988,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2962,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2977C>T",
"hgvs_p": "p.Arg993Trp",
"transcript": "ENST00000905619.1",
"protein_id": "ENSP00000575678.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2977,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2962C>T",
"hgvs_p": "p.Arg988Trp",
"transcript": "ENST00000905599.1",
"protein_id": "ENSP00000575658.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2962,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2959C>T",
"hgvs_p": "p.Arg987Trp",
"transcript": "ENST00000905613.1",
"protein_id": "ENSP00000575672.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2959,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2953C>T",
"hgvs_p": "p.Arg985Trp",
"transcript": "ENST00000905614.1",
"protein_id": "ENSP00000575673.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2953,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2944C>T",
"hgvs_p": "p.Arg982Trp",
"transcript": "ENST00000942947.1",
"protein_id": "ENSP00000613006.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2944,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2929C>T",
"hgvs_p": "p.Arg977Trp",
"transcript": "ENST00000905609.1",
"protein_id": "ENSP00000575668.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2929,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2911C>T",
"hgvs_p": "p.Arg971Trp",
"transcript": "ENST00000942954.1",
"protein_id": "ENSP00000613013.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 995,
"cds_start": 2911,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2905C>T",
"hgvs_p": "p.Arg969Trp",
"transcript": "ENST00000905605.1",
"protein_id": "ENSP00000575664.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 993,
"cds_start": 2905,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2902C>T",
"hgvs_p": "p.Arg968Trp",
"transcript": "ENST00000905607.1",
"protein_id": "ENSP00000575666.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 992,
"cds_start": 2902,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2896C>T",
"hgvs_p": "p.Arg966Trp",
"transcript": "ENST00000942951.1",
"protein_id": "ENSP00000613010.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 990,
"cds_start": 2896,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2887C>T",
"hgvs_p": "p.Arg963Trp",
"transcript": "ENST00000905603.1",
"protein_id": "ENSP00000575662.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 987,
"cds_start": 2887,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2884C>T",
"hgvs_p": "p.Arg962Trp",
"transcript": "ENST00000942955.1",
"protein_id": "ENSP00000613014.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 986,
"cds_start": 2884,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2881C>T",
"hgvs_p": "p.Arg961Trp",
"transcript": "ENST00000905600.1",
"protein_id": "ENSP00000575659.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 985,
"cds_start": 2881,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2881C>T",
"hgvs_p": "p.Arg961Trp",
"transcript": "ENST00000905616.1",
"protein_id": "ENSP00000575675.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 985,
"cds_start": 2881,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2860C>T",
"hgvs_p": "p.Arg954Trp",
"transcript": "ENST00000905618.1",
"protein_id": "ENSP00000575677.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 978,
"cds_start": 2860,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2851C>T",
"hgvs_p": "p.Arg951Trp",
"transcript": "ENST00000942948.1",
"protein_id": "ENSP00000613007.1",
"transcript_support_level": null,
"aa_start": 951,
"aa_end": null,
"aa_length": 975,
"cds_start": 2851,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2833C>T",
"hgvs_p": "p.Arg945Trp",
"transcript": "ENST00000905608.1",
"protein_id": "ENSP00000575667.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 969,
"cds_start": 2833,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2830C>T",
"hgvs_p": "p.Arg944Trp",
"transcript": "ENST00000905615.1",
"protein_id": "ENSP00000575674.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 968,
"cds_start": 2830,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2824C>T",
"hgvs_p": "p.Arg942Trp",
"transcript": "ENST00000942950.1",
"protein_id": "ENSP00000613009.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 966,
"cds_start": 2824,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2806C>T",
"hgvs_p": "p.Arg936Trp",
"transcript": "ENST00000905604.1",
"protein_id": "ENSP00000575663.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}