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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: 7-105547230-CCC-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=105547230&ref=CCC&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RINT1",
"hgnc_id": 21876,
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_021930.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"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": 792,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 851,
"cds_end": null,
"cds_length": 2379,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021930.6",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257700.7",
"protein_coding": true,
"protein_id": "NP_068749.3",
"strand": true,
"transcript": "NM_021930.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 792,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 851,
"cds_end": null,
"cds_length": 2379,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000257700.7",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021930.6",
"protein_coding": true,
"protein_id": "ENSP00000257700.2",
"strand": true,
"transcript": "ENST00000257700.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 827,
"aa_ref": "P",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 2484,
"cds_start": 865,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967558.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.865_867delCCCinsACT",
"hgvs_p": "p.Pro289Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637617.1",
"strand": true,
"transcript": "ENST00000967558.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 826,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 873,
"cds_end": null,
"cds_length": 2481,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899074.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569133.1",
"strand": true,
"transcript": "ENST00000899074.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 810,
"aa_ref": "P",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 905,
"cds_end": null,
"cds_length": 2433,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899073.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.790_792delCCCinsACT",
"hgvs_p": "p.Pro264Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569132.1",
"strand": true,
"transcript": "ENST00000899073.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 802,
"aa_ref": "P",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 893,
"cds_end": null,
"cds_length": 2409,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899072.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.766_768delCCCinsACT",
"hgvs_p": "p.Pro256Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569131.1",
"strand": true,
"transcript": "ENST00000899072.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 784,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 873,
"cds_end": null,
"cds_length": 2355,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899070.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569129.1",
"strand": true,
"transcript": "ENST00000899070.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 784,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 861,
"cds_end": null,
"cds_length": 2355,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930235.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600294.1",
"strand": true,
"transcript": "ENST00000930235.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2340,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967559.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637618.1",
"strand": true,
"transcript": "ENST00000967559.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 764,
"aa_ref": "P",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 792,
"cds_end": null,
"cds_length": 2295,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930233.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.652_654delCCCinsACT",
"hgvs_p": "p.Pro218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600292.1",
"strand": true,
"transcript": "ENST00000930233.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 752,
"aa_ref": "P",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 753,
"cds_end": null,
"cds_length": 2259,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930234.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.616_618delCCCinsACT",
"hgvs_p": "p.Pro206Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600293.1",
"strand": true,
"transcript": "ENST00000930234.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 750,
"aa_ref": "P",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 723,
"cds_end": null,
"cds_length": 2253,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930237.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.610_612delCCCinsACT",
"hgvs_p": "p.Pro204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600296.1",
"strand": true,
"transcript": "ENST00000930237.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 738,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 851,
"cds_end": null,
"cds_length": 2217,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930236.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600295.1",
"strand": true,
"transcript": "ENST00000930236.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 734,
"aa_ref": "P",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 699,
"cds_end": null,
"cds_length": 2205,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899071.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.562_564delCCCinsACT",
"hgvs_p": "p.Pro188Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569130.1",
"strand": true,
"transcript": "ENST00000899071.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 714,
"aa_ref": "P",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 714,
"cds_end": null,
"cds_length": 2145,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346599.2",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.502_504delCCCinsACT",
"hgvs_p": "p.Pro168Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333528.1",
"strand": true,
"transcript": "NM_001346599.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 692,
"aa_ref": "P",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 892,
"cds_end": null,
"cds_length": 2079,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930232.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.736_738delCCCinsACT",
"hgvs_p": "p.Pro246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600291.1",
"strand": true,
"transcript": "ENST00000930232.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 651,
"aa_ref": "P",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1956,
"cds_start": 313,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047420686.1",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.313_315delCCCinsACT",
"hgvs_p": "p.Pro105Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276642.1",
"strand": true,
"transcript": "XM_047420686.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 484,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": null,
"cds_end": null,
"cds_length": 1455,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001346601.2",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.-187_-185delCCCinsACT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333530.1",
"strand": true,
"transcript": "NM_001346601.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001346600.2",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.-284_-282delCCCinsACT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333529.1",
"strand": true,
"transcript": "NM_001346600.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346603.2",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "c.-27-2825_-27-2823delCCCinsACT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333532.1",
"strand": true,
"transcript": "NM_001346603.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 837,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000467392.5",
"gene_hgnc_id": 21876,
"gene_symbol": "RINT1",
"hgvs_c": "n.*434_*436delCCCinsACT",
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