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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: 1-111120671-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111120671&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "DRAM2",
"hgnc_id": 28769,
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001349889.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.957,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Cone-rod dystrophy 21,Retinal dystrophy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9922847747802734,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 662,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349884.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000484310.6",
"protein_coding": true,
"protein_id": "NP_001336813.1",
"strand": false,
"transcript": "NM_001349884.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 662,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000484310.6",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001349884.2",
"protein_coding": true,
"protein_id": "ENSP00000503400.1",
"strand": false,
"transcript": "ENST00000484310.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 980,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000286692.8",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000286692.4",
"strand": false,
"transcript": "ENST00000286692.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 606,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000539140.6",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437718.1",
"strand": false,
"transcript": "ENST00000539140.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349889.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336818.1",
"strand": false,
"transcript": "NM_001349889.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349890.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336819.1",
"strand": false,
"transcript": "NM_001349890.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001349891.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336820.1",
"strand": false,
"transcript": "NM_001349891.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349892.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336821.1",
"strand": false,
"transcript": "NM_001349892.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 136,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349893.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.-29A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336822.1",
"strand": false,
"transcript": "NM_001349893.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 304,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 667,
"cds_end": null,
"cds_length": 915,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933769.1",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603828.1",
"strand": false,
"transcript": "ENST00000933769.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 304,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 776,
"cds_end": null,
"cds_length": 915,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944783.1",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614842.1",
"strand": false,
"transcript": "ENST00000944783.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 707,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349881.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336810.1",
"strand": false,
"transcript": "NM_001349881.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 620,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349882.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336811.1",
"strand": false,
"transcript": "NM_001349882.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": 491,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349885.2",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336814.1",
"strand": false,
"transcript": "NM_001349885.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 496,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_178454.6",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_848549.3",
"strand": false,
"transcript": "NM_178454.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 822,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000875066.1",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545125.1",
"strand": false,
"transcript": "ENST00000875066.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 839,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000875067.1",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545126.1",
"strand": false,
"transcript": "ENST00000875067.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 737,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000875069.1",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545128.1",
"strand": false,
"transcript": "ENST00000875069.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": 605,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000875070.1",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545129.1",
"strand": false,
"transcript": "ENST00000875070.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 689,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000875071.1",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545130.1",
"strand": false,
"transcript": "ENST00000875071.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 266,
"aa_ref": "H",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 737,
"cds_end": null,
"cds_length": 801,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000875072.1",
"gene_hgnc_id": 28769,
"gene_symbol": "DRAM2",
"hgvs_c": "c.362A>T",
"hgvs_p": "p.His121Leu",
"intron_rank": null,
"intron_rank_end": null,
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"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Retinal dystrophy|Cone-rod dystrophy 21",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.831,
"pos": 111120671,
"ref": "T",
"revel_prediction": "Pathogenic",
"revel_score": 0.918,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.12999999523162842,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.13,
"transcript": "NM_001349889.2"
}
]
}