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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: 9-33796692-T-TGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33796692&ref=T&alt=TGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "PRSS3",
"hgnc_id": 9486,
"hgvs_c": "c.134_135dupAG",
"hgvs_p": "p.Glu46fs",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001197097.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "UBE2R2-AS1",
"hgnc_id": 49911,
"hgvs_c": "n.369+3093_369+3094dupTC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NR_170201.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGA",
"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": "R?",
"aa_end": null,
"aa_length": 247,
"aa_ref": "E",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 808,
"cdna_start": 107,
"cds_end": null,
"cds_length": 744,
"cds_start": 94,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_002771.4",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.92_93dupAG",
"hgvs_p": "p.Glu32fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379405.4",
"protein_coding": true,
"protein_id": "NP_002762.3",
"strand": true,
"transcript": "NM_002771.4",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 247,
"aa_ref": "E",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 808,
"cdna_start": 107,
"cds_end": null,
"cds_length": 744,
"cds_start": 94,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000379405.4",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.92_93dupAG",
"hgvs_p": "p.Glu32fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002771.4",
"protein_coding": true,
"protein_id": "ENSP00000368715.3",
"strand": true,
"transcript": "ENST00000379405.4",
"transcript_support_level": 1
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 259,
"aa_ref": "E",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 920,
"cdna_start": 220,
"cds_end": null,
"cds_length": 780,
"cds_start": 130,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000342836.9",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.128_129dupAG",
"hgvs_p": "p.Glu44fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340889.5",
"strand": true,
"transcript": "ENST00000342836.9",
"transcript_support_level": 1
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 240,
"aa_ref": "E",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": 86,
"cds_end": null,
"cds_length": 723,
"cds_start": 73,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000429677.8",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.71_72dupAG",
"hgvs_p": "p.Glu25fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401828.3",
"strand": true,
"transcript": "ENST00000429677.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 804,
"cdna_start": null,
"cds_end": null,
"cds_length": 420,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000361005.10",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.-233_-232dupAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354280.6",
"strand": true,
"transcript": "ENST00000361005.10",
"transcript_support_level": 1
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 261,
"aa_ref": "E",
"aa_start": 46,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": 231,
"cds_end": null,
"cds_length": 786,
"cds_start": 136,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001197097.3",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.134_135dupAG",
"hgvs_p": "p.Glu46fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184026.3",
"strand": true,
"transcript": "NM_001197097.3",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 240,
"aa_ref": "E",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": 86,
"cds_end": null,
"cds_length": 723,
"cds_start": 73,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001197098.1",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.71_72dupAG",
"hgvs_p": "p.Glu25fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184027.1",
"strand": true,
"transcript": "NM_001197098.1",
"transcript_support_level": null
},
{
"aa_alt": "R?",
"aa_end": null,
"aa_length": 247,
"aa_ref": "E",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2839,
"cdna_start": 2138,
"cds_end": null,
"cds_length": 744,
"cds_start": 94,
"consequences": [
"frameshift_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047423602.1",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.92_93dupAG",
"hgvs_p": "p.Glu32fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279558.1",
"strand": true,
"transcript": "XM_047423602.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 804,
"cdna_start": null,
"cds_end": null,
"cds_length": 420,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_007343.4",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.-233_-232dupAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_031369.3",
"strand": true,
"transcript": "NM_007343.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 911,
"cdna_start": null,
"cds_end": null,
"cds_length": 420,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011517965.2",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "c.-233_-232dupAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516267.2",
"strand": true,
"transcript": "XM_011517965.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 412,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000468152.2",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "n.208_209dupAG",
"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": "ENST00000468152.2",
"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": 647,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000454429.2",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.486+1674_486+1675dupTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000454429.2",
"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": 193,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000477653.2",
"gene_hgnc_id": 9486,
"gene_symbol": "PRSS3",
"hgvs_c": "n.44+1081_44+1082dupAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000477653.2",
"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": 2217,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000668091.1",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.1485+1674_1485+1675dupTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000668091.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000669609.1",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.1590+1674_1590+1675dupTC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000669609.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1134,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000705030.1",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.425+1674_425+1675dupTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000705030.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000723661.1",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.527+1674_527+1675dupTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000723661.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 858,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_170201.1",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.369+3093_369+3094dupTC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_170201.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 960,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_170202.1",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.558+1674_558+1675dupTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_170202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 961,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_170203.1",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.559+1674_559+1675dupTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_170203.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 991,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_170204.1",
"gene_hgnc_id": 49911,
"gene_symbol": "UBE2R2-AS1",
"hgvs_c": "n.558+1674_558+1675dupTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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