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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: 9-123381909-TGG-GGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=123381909&ref=TGG&alt=GGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "DENND1A",
"hgnc_id": 29324,
"hgvs_c": "c.2734_2736delCCAinsACC",
"hgvs_p": "p.Pro912Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001352964.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "P",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5208,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2734,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352964.2",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2734_2736delCCAinsACC",
"hgvs_p": "p.Pro912Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394215.7",
"protein_coding": true,
"protein_id": "NP_001339893.1",
"strand": false,
"transcript": "NM_001352964.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "P",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5208,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2734,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394215.7",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2734_2736delCCAinsACC",
"hgvs_p": "p.Pro912Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001352964.2",
"protein_coding": true,
"protein_id": "ENSP00000377763.4",
"strand": false,
"transcript": "ENST00000394215.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4800,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000473039.5",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "n.2543_2545delCCAinsACC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000473039.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "P",
"aa_start": 894,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5154,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2680,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393654.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2680_2682delCCAinsACC",
"hgvs_p": "p.Pro894Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380583.1",
"strand": false,
"transcript": "NM_001393654.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1052,
"aa_ref": "P",
"aa_start": 894,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5018,
"cdna_start": 2765,
"cds_end": null,
"cds_length": 3159,
"cds_start": 2680,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866226.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2680_2682delCCAinsACC",
"hgvs_p": "p.Pro894Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536285.1",
"strand": false,
"transcript": "ENST00000866226.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "P",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4895,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2599,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866228.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2599_2601delCCAinsACC",
"hgvs_p": "p.Pro867Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536287.1",
"strand": false,
"transcript": "ENST00000866228.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "P",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4902,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2599,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937726.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2599_2601delCCAinsACC",
"hgvs_p": "p.Pro867Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607785.1",
"strand": false,
"transcript": "ENST00000937726.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "P",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5039,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2584,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352965.2",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2584_2586delCCAinsACC",
"hgvs_p": "p.Pro862Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339894.1",
"strand": false,
"transcript": "NM_001352965.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "P",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5104,
"cdna_start": 2853,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2584,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400449.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2584_2586delCCAinsACC",
"hgvs_p": "p.Pro862Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387378.1",
"strand": false,
"transcript": "NM_001400449.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "P",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 2774,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2551,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020946.2",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2551_2553delCCAinsACC",
"hgvs_p": "p.Pro851Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065997.1",
"strand": false,
"transcript": "NM_020946.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "P",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5010,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2551,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373624.6",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2551_2553delCCAinsACC",
"hgvs_p": "p.Pro851Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362727.2",
"strand": false,
"transcript": "ENST00000373624.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 990,
"aa_ref": "P",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 2973,
"cds_start": 2494,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866225.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2494_2496delCCAinsACC",
"hgvs_p": "p.Pro832Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536284.1",
"strand": false,
"transcript": "ENST00000866225.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 974,
"aa_ref": "P",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4726,
"cdna_start": 2473,
"cds_end": null,
"cds_length": 2925,
"cds_start": 2446,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937728.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2446_2448delCCAinsACC",
"hgvs_p": "p.Pro816Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607787.1",
"strand": false,
"transcript": "ENST00000937728.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 972,
"aa_ref": "P",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4752,
"cdna_start": 2491,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2440,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866227.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2440_2442delCCAinsACC",
"hgvs_p": "p.Pro814Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536286.1",
"strand": false,
"transcript": "ENST00000866227.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 969,
"aa_ref": "P",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2431,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937724.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2431_2433delCCAinsACC",
"hgvs_p": "p.Pro811Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607783.1",
"strand": false,
"transcript": "ENST00000937724.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 967,
"aa_ref": "P",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4927,
"cdna_start": 2666,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937722.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2425_2427delCCAinsACC",
"hgvs_p": "p.Pro809Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607781.1",
"strand": false,
"transcript": "ENST00000937722.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 945,
"aa_ref": "P",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4654,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2359,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937727.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2359_2361delCCAinsACC",
"hgvs_p": "p.Pro787Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607786.1",
"strand": false,
"transcript": "ENST00000937727.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 931,
"aa_ref": "P",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4801,
"cdna_start": 2540,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937725.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2317_2319delCCAinsACC",
"hgvs_p": "p.Pro773Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607784.1",
"strand": false,
"transcript": "ENST00000937725.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 888,
"aa_ref": "P",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 2430,
"cds_end": null,
"cds_length": 2667,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937723.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2188_2190delCCAinsACC",
"hgvs_p": "p.Pro730Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607782.1",
"strand": false,
"transcript": "ENST00000937723.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "P",
"aa_start": 930,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5254,
"cdna_start": 3003,
"cds_end": null,
"cds_length": 3267,
"cds_start": 2788,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047423613.1",
"gene_hgnc_id": 29324,
"gene_symbol": "DENND1A",
"hgvs_c": "c.2788_2790delCCAinsACC",
"hgvs_p": "p.Pro930Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279569.1",
"strand": false,
"transcript": "XM_047423613.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "P",
"aa_start": 927,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 3790,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2779,
"consequences": [
"missense_variant"
],
"exon_count": 24,
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