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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: X-110719855-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=110719855&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 110719855,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "ENST00000372042.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.520dupT",
"hgvs_p": "p.Ser174fs",
"transcript": "NM_001143981.2",
"protein_id": "NP_001137453.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 458,
"cds_start": 520,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": "ENST00000372042.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.520dupT",
"hgvs_p": "p.Ser174fs",
"transcript": "ENST00000372042.6",
"protein_id": "ENSP00000361112.1",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 458,
"cds_start": 520,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": "NM_001143981.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.517dupT",
"hgvs_p": "p.Ser173fs",
"transcript": "ENST00000444321.2",
"protein_id": "ENSP00000399739.2",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 457,
"cds_start": 517,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.499dupT",
"hgvs_p": "p.Ser167fs",
"transcript": "ENST00000372045.5",
"protein_id": "ENSP00000361115.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 450,
"cds_start": 499,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.520dupT",
"hgvs_p": "p.Ser174fs",
"transcript": "NM_001367204.1",
"protein_id": "NP_001354133.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 458,
"cds_start": 520,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.517dupT",
"hgvs_p": "p.Ser173fs",
"transcript": "NM_001143982.2",
"protein_id": "NP_001137454.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 457,
"cds_start": 517,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.517dupT",
"hgvs_p": "p.Ser173fs",
"transcript": "NM_145234.4",
"protein_id": "NP_660277.2",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 456,
"cds_start": 517,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.517dupT",
"hgvs_p": "p.Ser173fs",
"transcript": "ENST00000394797.8",
"protein_id": "ENSP00000378276.4",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 456,
"cds_start": 517,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.520dupT",
"hgvs_p": "p.Ser174fs",
"transcript": "NM_001367205.1",
"protein_id": "NP_001354134.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 453,
"cds_start": 520,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.520dupT",
"hgvs_p": "p.Ser174fs",
"transcript": "NM_001367206.1",
"protein_id": "NP_001354135.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 453,
"cds_start": 520,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.517dupT",
"hgvs_p": "p.Ser173fs",
"transcript": "NM_001367207.1",
"protein_id": "NP_001354136.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 452,
"cds_start": 517,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 3842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.520dupT",
"hgvs_p": "p.Ser174fs",
"transcript": "NM_001367208.1",
"protein_id": "NP_001354137.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 452,
"cds_start": 520,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 3842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.520dupT",
"hgvs_p": "p.Ser174fs",
"transcript": "NM_001367209.1",
"protein_id": "NP_001354138.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 399,
"cds_start": 520,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.517dupT",
"hgvs_p": "p.Ser173fs",
"transcript": "XM_005262222.3",
"protein_id": "XP_005262279.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 457,
"cds_start": 517,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3915,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "n.628dupT",
"hgvs_p": null,
"transcript": "NR_159734.1",
"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": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.302-19135dupT",
"hgvs_p": null,
"transcript": "NM_001143983.3",
"protein_id": "NP_001137455.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"hgvs_c": "c.302-19135dupT",
"hgvs_p": null,
"transcript": "ENST00000482160.5",
"protein_id": "ENSP00000418443.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHRDL1",
"gene_hgnc_id": 29861,
"dbsnp": "rs1057516043",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 6.107,
"phylop100way_prediction": "Uncertain_significance",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000372042.6",
"gene_symbol": "CHRDL1",
"hgnc_id": 29861,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.520dupT",
"hgvs_p": "p.Ser174fs"
}
],
"clinvar_disease": "Megalocornea",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Megalocornea",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}