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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: 12-89497241-ACTG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=89497241&ref=ACTG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 89497241,
"ref": "ACTG",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000313546.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.199_201delCAG",
"hgvs_p": "p.Gln67del",
"transcript": "NM_172240.3",
"protein_id": "NP_758440.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 478,
"cds_start": 199,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": "ENST00000313546.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.199_201delCAG",
"hgvs_p": "p.Gln67del",
"transcript": "ENST00000313546.8",
"protein_id": "ENSP00000323302.3",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 478,
"cds_start": 199,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": "NM_172240.3",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.-118-5129_-118-5127delCAG",
"hgvs_p": null,
"transcript": "ENST00000393179.8",
"protein_id": "ENSP00000376877.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.73_75delCAG",
"hgvs_p": "p.Gln25del",
"transcript": "NM_001199777.2",
"protein_id": "NP_001186706.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 436,
"cds_start": 73,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.73_75delCAG",
"hgvs_p": "p.Gln25del",
"transcript": "ENST00000549035.1",
"protein_id": "ENSP00000447916.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 436,
"cds_start": 73,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.199_201delCAG",
"hgvs_p": "p.Gln67del",
"transcript": "NM_001425771.1",
"protein_id": "NP_001412700.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 403,
"cds_start": 199,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "c.199_201delCAG",
"hgvs_p": "p.Gln67del",
"transcript": "NM_001425794.1",
"protein_id": "NP_001412723.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 394,
"cds_start": 199,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.199_201delCAG",
"hgvs_p": "p.Gln67del",
"transcript": "NM_001425772.1",
"protein_id": "NP_001412701.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 199,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "c.199_201delCAG",
"hgvs_p": "p.Gln67del",
"transcript": "NM_001425795.1",
"protein_id": "NP_001412724.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 367,
"cds_start": 199,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2681,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.297_299delCAG",
"hgvs_p": null,
"transcript": "ENST00000539190.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1727,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.199_201delCAG",
"hgvs_p": null,
"transcript": "ENST00000546830.1",
"protein_id": "ENSP00000449256.1",
"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": 550,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "n.351_353delCAG",
"hgvs_p": null,
"transcript": "NR_189587.1",
"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": 3200,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "n.351_353delCAG",
"hgvs_p": null,
"transcript": "NR_189589.1",
"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": 3119,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "c.-118-5129_-118-5127delCAG",
"hgvs_p": null,
"transcript": "NM_001425796.1",
"protein_id": "NP_001412725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2509,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.-118-5129_-118-5127delCAG",
"hgvs_p": null,
"transcript": "NM_001425773.1",
"protein_id": "NP_001412702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": -4,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1154,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "c.-118-5129_-118-5127delCAG",
"hgvs_p": null,
"transcript": "ENST00000549504.1",
"protein_id": "ENSP00000450118.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.101-5129_101-5127delCAG",
"hgvs_p": null,
"transcript": "ENST00000547274.5",
"protein_id": "ENSP00000449648.1",
"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": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.101-5129_101-5127delCAG",
"hgvs_p": null,
"transcript": "ENST00000547496.5",
"protein_id": "ENSP00000447437.1",
"transcript_support_level": 2,
"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": 1392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.101-5129_101-5127delCAG",
"hgvs_p": null,
"transcript": "ENST00000548715.5",
"protein_id": "ENSP00000449945.1",
"transcript_support_level": 5,
"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": 829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.297-5129_297-5127delCAG",
"hgvs_p": null,
"transcript": "ENST00000552563.1",
"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": 700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.253-5129_253-5127delCAG",
"hgvs_p": null,
"transcript": "NR_037659.2",
"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": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"hgvs_c": "n.312-5129_312-5127delCAG",
"hgvs_p": null,
"transcript": "NR_037660.2",
"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": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POC1B-DUSP6",
"gene_hgnc_id": null,
"hgvs_c": "n.253-5129_253-5127delCAG",
"hgvs_p": null,
"transcript": "NR_189588.1",
"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": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POC1B",
"gene_hgnc_id": 30836,
"dbsnp": "rs587777693",
"frequency_reference_population": 0.0000061582423,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615824,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"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": 6.281,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000313546.8",
"gene_symbol": "POC1B",
"hgnc_id": 30836,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.199_201delCAG",
"hgvs_p": "p.Gln67del"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001425794.1",
"gene_symbol": "POC1B-DUSP6",
"hgnc_id": null,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "",
"hgvs_c": "c.199_201delCAG",
"hgvs_p": "p.Gln67del"
}
],
"clinvar_disease": "Cone-rod dystrophy 20",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Cone-rod dystrophy 20",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}