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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: 15-75356435-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75356435&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAN2C1",
"hgnc_id": 6827,
"hgvs_c": "c.2803G>A",
"hgvs_p": "p.Ala935Thr",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001256494.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "NEIL1",
"hgnc_id": 18448,
"hgvs_c": "c.*1401C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_024608.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1358,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "15",
"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": 0.8270695209503174,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "A",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2776,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2752,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_006715.4",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2752G>A",
"hgvs_p": "p.Ala918Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267978.10",
"protein_coding": true,
"protein_id": "NP_006706.2",
"strand": false,
"transcript": "NM_006715.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "A",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2776,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2752,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000267978.10",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2752G>A",
"hgvs_p": "p.Ala918Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006715.4",
"protein_coding": true,
"protein_id": "ENSP00000267978.4",
"strand": false,
"transcript": "ENST00000267978.10",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "A",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 2815,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2803,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000565683.5",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2803G>A",
"hgvs_p": "p.Ala935Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457788.1",
"strand": false,
"transcript": "ENST00000565683.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 941,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000563622.5",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454589.1",
"strand": false,
"transcript": "ENST00000563622.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_024608.4",
"gene_hgnc_id": 18448,
"gene_symbol": "NEIL1",
"hgvs_c": "c.*1401C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355059.9",
"protein_coding": true,
"protein_id": "NP_078884.2",
"strand": true,
"transcript": "NM_024608.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000355059.9",
"gene_hgnc_id": 18448,
"gene_symbol": "NEIL1",
"hgvs_c": "c.*1401C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024608.4",
"protein_coding": true,
"protein_id": "ENSP00000347170.4",
"strand": true,
"transcript": "ENST00000355059.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1017,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": null,
"cds_end": null,
"cds_length": 3054,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000569482.5",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2738-55G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455998.1",
"strand": false,
"transcript": "ENST00000569482.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "A",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2878,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2854,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854693.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Ala952Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524752.1",
"strand": false,
"transcript": "ENST00000854693.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "A",
"aa_start": 944,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 3201,
"cds_start": 2830,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854682.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2830G>A",
"hgvs_p": "p.Ala944Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524741.1",
"strand": false,
"transcript": "ENST00000854682.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "A",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 3198,
"cds_start": 2827,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000964304.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2827G>A",
"hgvs_p": "p.Ala943Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634363.1",
"strand": false,
"transcript": "ENST00000964304.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "A",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 3186,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000964320.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Ala939Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634379.1",
"strand": false,
"transcript": "ENST00000964320.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "A",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 3180,
"cds_start": 2809,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854686.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Ala937Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524745.1",
"strand": false,
"transcript": "ENST00000854686.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3313,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2806,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854698.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2806G>A",
"hgvs_p": "p.Ala936Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524757.1",
"strand": false,
"transcript": "ENST00000854698.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "A",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 2827,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2803,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001256494.2",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2803G>A",
"hgvs_p": "p.Ala935Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243423.1",
"strand": false,
"transcript": "NM_001256494.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1054,
"aa_ref": "A",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 2811,
"cds_end": null,
"cds_length": 3165,
"cds_start": 2794,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000964318.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2794G>A",
"hgvs_p": "p.Ala932Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634377.1",
"strand": false,
"transcript": "ENST00000964318.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "A",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2791,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854704.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524763.1",
"strand": false,
"transcript": "ENST00000854704.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "A",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 2823,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2788,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854683.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2788G>A",
"hgvs_p": "p.Ala930Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524742.1",
"strand": false,
"transcript": "ENST00000854683.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "A",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2810,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2788,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854697.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2788G>A",
"hgvs_p": "p.Ala930Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524756.1",
"strand": false,
"transcript": "ENST00000854697.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "A",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 2806,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2782,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854695.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2782G>A",
"hgvs_p": "p.Ala928Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524754.1",
"strand": false,
"transcript": "ENST00000854695.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "A",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 2799,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2782,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000854702.1",
"gene_hgnc_id": 6827,
"gene_symbol": "MAN2C1",
"hgvs_c": "c.2782G>A",
"hgvs_p": "p.Ala928Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524761.1",
"strand": false,
"transcript": "ENST00000854702.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
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}