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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: 14-92071009-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92071009&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP6"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "ATXN3",
"hgnc_id": 7106,
"hgvs_c": "c.916_917insC",
"hgvs_p": "p.Gly306fs",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_004993.6",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000303901",
"hgnc_id": null,
"hgvs_c": "n.752+30706_752+30707insG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "ENST00000797940.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6",
"acmg_score": -1,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "ATXN3-related disorder,Azorean disease,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 B:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 361,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6884,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1086,
"cds_start": 916,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004993.6",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.916_917insC",
"hgvs_p": "p.Gly306fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644486.2",
"protein_coding": true,
"protein_id": "NP_004984.2",
"strand": false,
"transcript": "NM_004993.6",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 361,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6884,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1086,
"cds_start": 916,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000644486.2",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.916_917insC",
"hgvs_p": "p.Gly306fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004993.6",
"protein_coding": true,
"protein_id": "ENSP00000496695.1",
"strand": false,
"transcript": "ENST00000644486.2",
"transcript_support_level": null
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 364,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1095,
"cds_start": 916,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000532032.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.916_917insC",
"hgvs_p": "p.Gly306fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437157.1",
"strand": false,
"transcript": "ENST00000532032.5",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 346,
"aa_ref": "G",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1041,
"cds_start": 871,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000503767.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.871_872insC",
"hgvs_p": "p.Gly291fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426697.1",
"strand": false,
"transcript": "ENST00000503767.5",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 328,
"aa_ref": "G",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1010,
"cdna_start": 935,
"cds_end": null,
"cds_length": 988,
"cds_start": 913,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000554592.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.913_914insC",
"hgvs_p": "p.Gly305fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451385.1",
"strand": false,
"transcript": "ENST00000554592.5",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 310,
"aa_ref": "G",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6770,
"cdna_start": 832,
"cds_end": null,
"cds_length": 933,
"cds_start": 763,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000393287.9",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.763_764insC",
"hgvs_p": "p.Gly255fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376965.6",
"strand": false,
"transcript": "ENST00000393287.9",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 306,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1205,
"cdna_start": 809,
"cds_end": null,
"cds_length": 921,
"cds_start": 751,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000340660.10",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.751_752insC",
"hgvs_p": "p.Gly251fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339110.6",
"strand": false,
"transcript": "ENST00000340660.10",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 291,
"aa_ref": "G",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6713,
"cdna_start": 775,
"cds_end": null,
"cds_length": 876,
"cds_start": 706,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000429774.6",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.706_707insC",
"hgvs_p": "p.Gly236fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389376.3",
"strand": false,
"transcript": "ENST00000429774.6",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 277,
"aa_ref": "G",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": 785,
"cds_end": null,
"cds_length": 835,
"cds_start": 763,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000553491.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.763_764insC",
"hgvs_p": "p.Gly255fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451996.1",
"strand": false,
"transcript": "ENST00000553491.5",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 259,
"aa_ref": "G",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 803,
"cdna_start": 728,
"cds_end": null,
"cds_length": 781,
"cds_start": 706,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000555381.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.706_707insC",
"hgvs_p": "p.Gly236fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451001.1",
"strand": false,
"transcript": "ENST00000555381.5",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 692,
"cdna_start": 620,
"cds_end": null,
"cds_length": 670,
"cds_start": 598,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000556220.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.598_599insC",
"hgvs_p": "p.Gly200fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450641.1",
"strand": false,
"transcript": "ENST00000556220.5",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 182,
"aa_ref": "G",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 650,
"cds_end": null,
"cds_length": 549,
"cds_start": 379,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000502250.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.379_380insC",
"hgvs_p": "p.Gly127fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425322.1",
"strand": false,
"transcript": "ENST00000502250.5",
"transcript_support_level": 1
},
{
"aa_alt": "A?",
"aa_end": null,
"aa_length": 149,
"aa_ref": "G",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": 487,
"cds_end": null,
"cds_length": 451,
"cds_start": 379,
"consequences": [
"frameshift_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000557311.6",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "c.379_380insC",
"hgvs_p": "p.Gly127fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450642.2",
"strand": false,
"transcript": "ENST00000557311.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000359366.10",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "n.*590_*591insC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000352324.5",
"strand": false,
"transcript": "ENST00000359366.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000553287.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "n.654_655insC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000553287.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1022,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000553309.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "n.950_951insC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000553309.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000553488.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "n.*731_*732insC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452461.1",
"strand": false,
"transcript": "ENST00000553488.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 911,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000553498.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "n.839_840insC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000553498.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000553570.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "n.*375_*376insC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451405.1",
"strand": false,
"transcript": "ENST00000553570.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000553686.5",
"gene_hgnc_id": 7106,
"gene_symbol": "ATXN3",
"hgvs_c": "n.797_798insC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000553686.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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}