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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: 3-49808028-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49808028&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49808028,
"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": 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.2515C>G",
"hgvs_p": "p.Arg839Gly",
"transcript": "NM_003335.3",
"protein_id": "NP_003326.2",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2515,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 3304,
"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": 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.2515C>G",
"hgvs_p": "p.Arg839Gly",
"transcript": "ENST00000333486.4",
"protein_id": "ENSP00000333266.3",
"transcript_support_level": 1,
"aa_start": 839,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2515,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 3304,
"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": 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.2530C>G",
"hgvs_p": "p.Arg844Gly",
"transcript": "ENST00000905619.1",
"protein_id": "ENSP00000575678.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2530,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 3261,
"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": 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.2515C>G",
"hgvs_p": "p.Arg839Gly",
"transcript": "ENST00000905599.1",
"protein_id": "ENSP00000575658.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2515,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 3376,
"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": 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.2512C>G",
"hgvs_p": "p.Arg838Gly",
"transcript": "ENST00000905613.1",
"protein_id": "ENSP00000575672.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2512,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2657,
"cdna_end": null,
"cdna_length": 3284,
"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": 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.2506C>G",
"hgvs_p": "p.Arg836Gly",
"transcript": "ENST00000905614.1",
"protein_id": "ENSP00000575673.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2506,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 3268,
"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": 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.2497C>G",
"hgvs_p": "p.Arg833Gly",
"transcript": "ENST00000942947.1",
"protein_id": "ENSP00000613006.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2497,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2742,
"cdna_end": null,
"cdna_length": 3363,
"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": 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.2482C>G",
"hgvs_p": "p.Arg828Gly",
"transcript": "ENST00000905609.1",
"protein_id": "ENSP00000575668.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2482,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 3264,
"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": 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.2464C>G",
"hgvs_p": "p.Arg822Gly",
"transcript": "ENST00000942954.1",
"protein_id": "ENSP00000613013.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 995,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2595,
"cdna_end": null,
"cdna_length": 3216,
"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": 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.2458C>G",
"hgvs_p": "p.Arg820Gly",
"transcript": "ENST00000905605.1",
"protein_id": "ENSP00000575664.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 993,
"cds_start": 2458,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 3252,
"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": 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.2455C>G",
"hgvs_p": "p.Arg819Gly",
"transcript": "ENST00000905607.1",
"protein_id": "ENSP00000575666.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 992,
"cds_start": 2455,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2622,
"cdna_end": null,
"cdna_length": 3245,
"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": 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.2449C>G",
"hgvs_p": "p.Arg817Gly",
"transcript": "ENST00000942951.1",
"protein_id": "ENSP00000613010.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 990,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2973,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 3223,
"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": 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.2440C>G",
"hgvs_p": "p.Arg814Gly",
"transcript": "ENST00000905603.1",
"protein_id": "ENSP00000575662.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 987,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2619,
"cdna_end": null,
"cdna_length": 3246,
"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": 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.2437C>G",
"hgvs_p": "p.Arg813Gly",
"transcript": "ENST00000942955.1",
"protein_id": "ENSP00000613014.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 986,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2548,
"cdna_end": null,
"cdna_length": 3168,
"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": 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.2440C>G",
"hgvs_p": "p.Arg814Gly",
"transcript": "ENST00000905600.1",
"protein_id": "ENSP00000575659.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 985,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 3280,
"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": 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.2434C>G",
"hgvs_p": "p.Arg812Gly",
"transcript": "ENST00000905616.1",
"protein_id": "ENSP00000575675.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 985,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 3179,
"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": 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.2515C>G",
"hgvs_p": "p.Arg839Gly",
"transcript": "ENST00000905618.1",
"protein_id": "ENSP00000575677.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 978,
"cds_start": 2515,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905618.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA7",
"gene_hgnc_id": 12471,
"hgvs_c": "c.2404C>G",
"hgvs_p": "p.Arg802Gly",
"transcript": "ENST00000942948.1",
"protein_id": "ENSP00000613007.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 975,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3209,
"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": 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.2386C>G",
"hgvs_p": "p.Arg796Gly",
"transcript": "ENST00000905608.1",
"protein_id": "ENSP00000575667.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 969,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 3174,
"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": 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.2383C>G",
"hgvs_p": "p.Arg795Gly",
"transcript": "ENST00000905615.1",
"protein_id": "ENSP00000575674.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 968,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 3131,
"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": 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.2377C>G",
"hgvs_p": "p.Arg793Gly",
"transcript": "ENST00000942950.1",
"protein_id": "ENSP00000613009.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 966,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 3153,
"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": 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.2359C>G",
"hgvs_p": "p.Arg787Gly",
"transcript": "ENST00000905604.1",
"protein_id": "ENSP00000575663.1",
"transcript_support_level": null,
"aa_start": 787,
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}