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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: 2-222221300-A-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=222221300&ref=A&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 222221300,
"ref": "A",
"alt": "AC",
"effect": "frameshift_variant",
"transcript": "ENST00000392070.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "NM_181458.4",
"protein_id": "NP_852123.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 484,
"cds_start": 879,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "ENST00000392070.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "ENST00000392070.7",
"protein_id": "ENSP00000375922.3",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 484,
"cds_start": 879,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": "NM_181458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.876dupG",
"hgvs_p": "p.Phe293fs",
"transcript": "ENST00000409551.7",
"protein_id": "ENSP00000386750.3",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 483,
"cds_start": 876,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "ENST00000336840.11",
"protein_id": "ENSP00000338767.5",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 407,
"cds_start": 879,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "ENST00000344493.9",
"protein_id": "ENSP00000342092.4",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 403,
"cds_start": 879,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "NM_181459.4",
"protein_id": "NP_852124.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 505,
"cds_start": 879,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "ENST00000392069.6",
"protein_id": "ENSP00000375921.2",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 505,
"cds_start": 879,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.876dupG",
"hgvs_p": "p.Phe293fs",
"transcript": "NM_001127366.3",
"protein_id": "NP_001120838.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 483,
"cds_start": 876,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "NM_181457.4",
"protein_id": "NP_852122.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 479,
"cds_start": 879,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "ENST00000350526.9",
"protein_id": "ENSP00000343052.4",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 479,
"cds_start": 879,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "NM_181460.4",
"protein_id": "NP_852125.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 407,
"cds_start": 879,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs",
"transcript": "NM_181461.4",
"protein_id": "NP_852126.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 403,
"cds_start": 879,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 3112,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "n.317dupG",
"hgvs_p": null,
"transcript": "ENST00000464706.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 977,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "n.110dupG",
"hgvs_p": null,
"transcript": "ENST00000555548.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 458,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "n.205dupG",
"hgvs_p": null,
"transcript": "ENST00000644699.1",
"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": 865,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "n.151dupG",
"hgvs_p": null,
"transcript": "ENST00000644937.1",
"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": 869,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"hgvs_c": "n.693dupG",
"hgvs_p": null,
"transcript": "ENST00000646154.1",
"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": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107985991",
"gene_hgnc_id": null,
"hgvs_c": "n.617dupC",
"hgvs_p": null,
"transcript": "XR_001739903.2",
"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": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PAX3",
"gene_hgnc_id": 8617,
"dbsnp": "rs1553572967",
"frequency_reference_population": 6.841199e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8412e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -2.081,
"phylop100way_prediction": "Benign",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000392070.7",
"gene_symbol": "PAX3",
"hgnc_id": 8617,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.879dupG",
"hgvs_p": "p.Phe294fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_001739903.2",
"gene_symbol": "LOC107985991",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.617dupC",
"hgvs_p": null
}
],
"clinvar_disease": "Rare genetic deafness,Waardenburg syndrome,Waardenburg syndrome type 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Rare genetic deafness;Waardenburg syndrome|Waardenburg syndrome type 1|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}