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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: 4-15511290-T-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15511290&ref=T&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "CC2D2A",
"hgnc_id": 29253,
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001080522.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124900672",
"hgnc_id": null,
"hgvs_c": "n.252+3164_252+3165dupTA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "XR_007058062.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Joubert syndrome 9",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 781,
"cds_end": null,
"cds_length": 4863,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001378615.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424120.6",
"protein_coding": true,
"protein_id": "NP_001365544.1",
"strand": true,
"transcript": "NM_001378615.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 781,
"cds_end": null,
"cds_length": 4863,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000424120.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378615.1",
"protein_coding": true,
"protein_id": "ENSP00000403465.1",
"strand": true,
"transcript": "ENST00000424120.6",
"transcript_support_level": 5
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 826,
"cds_end": null,
"cds_length": 4863,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 38,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000503292.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421809.1",
"strand": true,
"transcript": "ENST00000503292.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2744,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000513811.5",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.765_766dupTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513811.5",
"transcript_support_level": 1
},
{
"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": 4784,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000634028.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.438_439dupTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000488669.2",
"strand": true,
"transcript": "ENST00000634028.2",
"transcript_support_level": 1
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1632,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 605,
"cds_end": null,
"cds_length": 4899,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 38,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000389652.11",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374303.8",
"strand": true,
"transcript": "ENST00000389652.11",
"transcript_support_level": 5
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1627,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5193,
"cdna_start": 776,
"cds_end": null,
"cds_length": 4884,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 38,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951218.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621277.1",
"strand": true,
"transcript": "ENST00000951218.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 832,
"cds_end": null,
"cds_length": 4863,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 38,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001080522.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073991.2",
"strand": true,
"transcript": "NM_001080522.2",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1620,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": 758,
"cds_end": null,
"cds_length": 4863,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860661.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530720.1",
"strand": true,
"transcript": "ENST00000860661.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": 766,
"cds_end": null,
"cds_length": 4854,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951219.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621278.1",
"strand": true,
"transcript": "ENST00000951219.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1573,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": 786,
"cds_end": null,
"cds_length": 4722,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 36,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860662.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530721.1",
"strand": true,
"transcript": "ENST00000860662.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4984,
"cdna_start": 581,
"cds_end": null,
"cds_length": 4716,
"cds_start": 440,
"consequences": [
"frameshift_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001378617.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.438_439dupTA",
"hgvs_p": "p.Thr147fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365546.1",
"strand": true,
"transcript": "NM_001378617.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1571,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4989,
"cdna_start": 589,
"cds_end": null,
"cds_length": 4716,
"cds_start": 440,
"consequences": [
"frameshift_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000506643.5",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.438_439dupTA",
"hgvs_p": "p.Thr147fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422931.2",
"strand": true,
"transcript": "ENST00000506643.5",
"transcript_support_level": 2
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1512,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4809,
"cdna_start": 589,
"cds_end": null,
"cds_length": 4539,
"cds_start": 440,
"consequences": [
"frameshift_variant"
],
"exon_count": 34,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674945.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.438_439dupTA",
"hgvs_p": "p.Thr147fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502333.1",
"strand": true,
"transcript": "ENST00000674945.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 687,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3676,
"cdna_start": 826,
"cds_end": null,
"cds_length": 2064,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000512702.6",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422875.2",
"strand": true,
"transcript": "ENST00000512702.6",
"transcript_support_level": 2
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 638,
"aa_ref": "T",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1917,
"cds_start": 440,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000651385.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.438_439dupTA",
"hgvs_p": "p.Thr147fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499005.1",
"strand": true,
"transcript": "ENST00000651385.1",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 276,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": 742,
"cds_end": null,
"cds_length": 831,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000514450.3",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502062.1",
"strand": true,
"transcript": "ENST00000514450.3",
"transcript_support_level": 3
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": 798,
"cds_end": null,
"cds_length": 3042,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011513872.4",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512174.1",
"strand": true,
"transcript": "XM_011513872.4",
"transcript_support_level": null
},
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "T",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 798,
"cds_end": null,
"cds_length": 3039,
"cds_start": 587,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047416010.1",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "c.585_586dupTA",
"hgvs_p": "p.Thr196fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271966.1",
"strand": true,
"transcript": "XM_047416010.1",
"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": 5513,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 36,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000650860.2",
"gene_hgnc_id": 29253,
"gene_symbol": "CC2D2A",
"hgvs_c": "n.438_439dupTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498775.1",
"strand": true,
"transcript": "ENST00000650860.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
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]
}