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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: 22-21963982-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=21963982&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 21963982,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357179.10",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.His382Leu",
"transcript": "NM_001282112.2",
"protein_id": "NP_001269041.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": "ENST00000357179.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.His382Leu",
"transcript": "ENST00000357179.10",
"protein_id": "ENSP00000349705.5",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": "NM_001282112.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.His382Leu",
"transcript": "ENST00000398793.6",
"protein_id": "ENSP00000381773.2",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 3107,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1F-AS1",
"gene_hgnc_id": 40888,
"hgvs_c": "n.24202T>A",
"hgvs_p": null,
"transcript": "ENST00000458178.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 37852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.His382Leu",
"transcript": "NM_001282113.2",
"protein_id": "NP_001269042.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.His382Leu",
"transcript": "NM_001349845.2",
"protein_id": "NP_001336774.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1337,
"cdna_end": null,
"cdna_length": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.His382Leu",
"transcript": "NM_001349847.2",
"protein_id": "NP_001336776.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.His382Leu",
"transcript": "NM_003935.5",
"protein_id": "NP_003926.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.737A>T",
"hgvs_p": "p.His246Leu",
"transcript": "NM_001349848.2",
"protein_id": "NP_001336777.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 726,
"cds_start": 737,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.737A>T",
"hgvs_p": "p.His246Leu",
"transcript": "NM_001349850.2",
"protein_id": "NP_001336779.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 726,
"cds_start": 737,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.737A>T",
"hgvs_p": "p.His246Leu",
"transcript": "NM_001349851.2",
"protein_id": "NP_001336780.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 594,
"cds_start": 737,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.737A>T",
"hgvs_p": "p.His246Leu",
"transcript": "NM_001349852.2",
"protein_id": "NP_001336781.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 594,
"cds_start": 737,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.527A>T",
"hgvs_p": "p.His176Leu",
"transcript": "ENST00000457270.5",
"protein_id": "ENSP00000408282.1",
"transcript_support_level": 5,
"aa_start": 176,
"aa_end": null,
"aa_length": 524,
"cds_start": 527,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2956,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.341A>T",
"hgvs_p": null,
"transcript": "ENST00000436282.1",
"protein_id": "ENSP00000416451.1",
"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": 2890,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.*837A>T",
"hgvs_p": null,
"transcript": "ENST00000444502.5",
"protein_id": "ENSP00000392480.1",
"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": 4163,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.*837A>T",
"hgvs_p": null,
"transcript": "ENST00000457179.5",
"protein_id": "ENSP00000397221.1",
"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": 3061,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.1383A>T",
"hgvs_p": null,
"transcript": "NR_146277.2",
"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": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.*837A>T",
"hgvs_p": null,
"transcript": "ENST00000444502.5",
"protein_id": "ENSP00000392480.1",
"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": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.*837A>T",
"hgvs_p": null,
"transcript": "ENST00000457179.5",
"protein_id": "ENSP00000397221.1",
"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": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"dbsnp": "rs75602167",
"frequency_reference_population": 6.8469046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8469e-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": 0.28376707434654236,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.1008,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.321,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357179.10",
"gene_symbol": "TOP3B",
"hgnc_id": 11993,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1145A>T",
"hgvs_p": "p.His382Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000458178.2",
"gene_symbol": "PPM1F-AS1",
"hgnc_id": 40888,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.24202T>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}