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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: 2-222294248-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=222294248&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 222294248,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392070.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "NM_181458.4",
"protein_id": "NP_852123.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 484,
"cds_start": 505,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "ENST00000392070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "ENST00000392070.7",
"protein_id": "ENSP00000375922.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 484,
"cds_start": 505,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "NM_181458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.502G>C",
"hgvs_p": "p.Glu168Gln",
"transcript": "ENST00000409551.7",
"protein_id": "ENSP00000386750.3",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 483,
"cds_start": 502,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "ENST00000336840.11",
"protein_id": "ENSP00000338767.5",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 407,
"cds_start": 505,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "ENST00000344493.9",
"protein_id": "ENSP00000342092.4",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 403,
"cds_start": 505,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "ENST00000409828.7",
"protein_id": "ENSP00000386817.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 215,
"cds_start": 505,
"cds_end": null,
"cds_length": 648,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "ENST00000258387.6",
"protein_id": "ENSP00000258387.5",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 206,
"cds_start": 505,
"cds_end": null,
"cds_length": 621,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "NM_181459.4",
"protein_id": "NP_852124.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 505,
"cds_start": 505,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "ENST00000392069.6",
"protein_id": "ENSP00000375921.2",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 505,
"cds_start": 505,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.502G>C",
"hgvs_p": "p.Glu168Gln",
"transcript": "NM_001127366.3",
"protein_id": "NP_001120838.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 483,
"cds_start": 502,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "NM_181457.4",
"protein_id": "NP_852122.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 479,
"cds_start": 505,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "ENST00000350526.9",
"protein_id": "ENSP00000343052.4",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 479,
"cds_start": 505,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "NM_181460.4",
"protein_id": "NP_852125.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 407,
"cds_start": 505,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "NM_181461.4",
"protein_id": "NP_852126.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 403,
"cds_start": 505,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "NM_000438.6",
"protein_id": "NP_000429.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 215,
"cds_start": 505,
"cds_end": null,
"cds_length": 648,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln",
"transcript": "NM_013942.5",
"protein_id": "NP_039230.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 206,
"cds_start": 505,
"cds_end": null,
"cds_length": 621,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "n.886G>C",
"hgvs_p": null,
"transcript": "ENST00000647467.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "n.-54G>C",
"hgvs_p": null,
"transcript": "ENST00000644490.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"dbsnp": "rs878853019",
"frequency_reference_population": 0.0000013680882,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34962329268455505,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.43,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1983,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 1,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000392070.7",
"gene_symbol": "PAX3",
"hgnc_id": 8617,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.505G>C",
"hgvs_p": "p.Glu169Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}