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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: 3-49807866-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49807866&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UBA7",
"hgnc_id": 12471,
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Gly862Asp",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_003335.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.8837,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9815970659255981,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "G",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 2751,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2585,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_003335.3",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Gly862Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333486.4",
"protein_coding": true,
"protein_id": "NP_003326.2",
"strand": false,
"transcript": "NM_003335.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "G",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 2751,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2585,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000333486.4",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Gly862Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003335.3",
"protein_coding": true,
"protein_id": "ENSP00000333266.3",
"strand": false,
"transcript": "ENST00000333486.4",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "G",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2712,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905619.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2600G>A",
"hgvs_p": "p.Gly867Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575678.1",
"strand": false,
"transcript": "ENST00000905619.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "G",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 2826,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2585,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000905599.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Gly862Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575658.1",
"strand": false,
"transcript": "ENST00000905599.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "G",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 2727,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2582,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905613.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2582G>A",
"hgvs_p": "p.Gly861Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575672.1",
"strand": false,
"transcript": "ENST00000905613.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "G",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 2719,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905614.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Gly859Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575673.1",
"strand": false,
"transcript": "ENST00000905614.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "G",
"aa_start": 856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2812,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2567,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000942947.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2567G>A",
"hgvs_p": "p.Gly856Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613006.1",
"strand": false,
"transcript": "ENST00000942947.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "G",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 2707,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2552,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905609.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2552G>A",
"hgvs_p": "p.Gly851Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575668.1",
"strand": false,
"transcript": "ENST00000905609.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 995,
"aa_ref": "G",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000942954.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2534G>A",
"hgvs_p": "p.Gly845Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613013.1",
"strand": false,
"transcript": "ENST00000942954.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 993,
"aa_ref": "G",
"aa_start": 843,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 2695,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2528,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905605.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2528G>A",
"hgvs_p": "p.Gly843Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575664.1",
"strand": false,
"transcript": "ENST00000905605.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 992,
"aa_ref": "G",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2692,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2525,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905607.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2525G>A",
"hgvs_p": "p.Gly842Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575666.1",
"strand": false,
"transcript": "ENST00000905607.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 990,
"aa_ref": "G",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 2674,
"cds_end": null,
"cds_length": 2973,
"cds_start": 2519,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000942951.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2519G>A",
"hgvs_p": "p.Gly840Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613010.1",
"strand": false,
"transcript": "ENST00000942951.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 987,
"aa_ref": "G",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3246,
"cdna_start": 2689,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905603.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2510G>A",
"hgvs_p": "p.Gly837Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575662.1",
"strand": false,
"transcript": "ENST00000905603.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 986,
"aa_ref": "G",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2507,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000942955.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2507G>A",
"hgvs_p": "p.Gly836Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613014.1",
"strand": false,
"transcript": "ENST00000942955.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 985,
"aa_ref": "G",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2737,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905600.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2510G>A",
"hgvs_p": "p.Gly837Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575659.1",
"strand": false,
"transcript": "ENST00000905600.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 985,
"aa_ref": "G",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 2622,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2504,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905616.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2504G>A",
"hgvs_p": "p.Gly835Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575675.1",
"strand": false,
"transcript": "ENST00000905616.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 978,
"aa_ref": "G",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2585,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905618.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2585G>A",
"hgvs_p": "p.Gly862Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575677.1",
"strand": false,
"transcript": "ENST00000905618.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 975,
"aa_ref": "G",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2474,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000942948.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2474G>A",
"hgvs_p": "p.Gly825Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613007.1",
"strand": false,
"transcript": "ENST00000942948.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 969,
"aa_ref": "G",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000905608.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2456G>A",
"hgvs_p": "p.Gly819Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575667.1",
"strand": false,
"transcript": "ENST00000905608.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 968,
"aa_ref": "G",
"aa_start": 818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 2578,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2453,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000905615.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2453G>A",
"hgvs_p": "p.Gly818Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575674.1",
"strand": false,
"transcript": "ENST00000905615.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 966,
"aa_ref": "G",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2447,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000942950.1",
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