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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: 20-44051529-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44051529&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44051529,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001098797.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ser212Leu",
"transcript": "NM_001098797.2",
"protein_id": "NP_001092267.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 506,
"cds_start": 635,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341197.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098797.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ser212Leu",
"transcript": "ENST00000341197.9",
"protein_id": "ENSP00000344724.3",
"transcript_support_level": 2,
"aa_start": 212,
"aa_end": null,
"aa_length": 506,
"cds_start": 635,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098797.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341197.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "ENST00000372999.5",
"protein_id": "ENSP00000362090.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 464,
"cds_start": 509,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372999.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ser212Leu",
"transcript": "ENST00000864666.1",
"protein_id": "ENSP00000534725.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 552,
"cds_start": 635,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864666.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ser221Leu",
"transcript": "NM_001098798.2",
"protein_id": "NP_001092268.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 488,
"cds_start": 662,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098798.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ser221Leu",
"transcript": "ENST00000358131.5",
"protein_id": "ENSP00000350849.5",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 488,
"cds_start": 662,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358131.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Ser190Leu",
"transcript": "ENST00000956506.1",
"protein_id": "ENSP00000626565.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 484,
"cds_start": 569,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956506.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ser212Leu",
"transcript": "ENST00000864665.1",
"protein_id": "ENSP00000534724.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 479,
"cds_start": 635,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864665.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "NM_001098796.2",
"protein_id": "NP_001092266.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 464,
"cds_start": 509,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098796.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "NM_032883.3",
"protein_id": "NP_116272.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 464,
"cds_start": 509,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032883.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "ENST00000423191.6",
"protein_id": "ENSP00000390278.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 464,
"cds_start": 509,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423191.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ser221Leu",
"transcript": "XM_006723884.1",
"protein_id": "XP_006723947.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 515,
"cds_start": 662,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723884.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "XM_047440560.1",
"protein_id": "XP_047296516.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 464,
"cds_start": 509,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440560.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "XM_047440561.1",
"protein_id": "XP_047296517.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 464,
"cds_start": 509,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440561.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ser212Leu",
"transcript": "XM_047440563.1",
"protein_id": "XP_047296519.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 392,
"cds_start": 635,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440563.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ser221Leu",
"transcript": "XM_047440564.1",
"protein_id": "XP_047296520.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 356,
"cds_start": 662,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440564.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "XM_047440562.1",
"protein_id": "XP_047296518.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 350,
"cds_start": 509,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440562.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ser212Leu",
"transcript": "XM_047440565.1",
"protein_id": "XP_047296521.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 347,
"cds_start": 635,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440565.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "XM_017028109.2",
"protein_id": "XP_016883598.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 305,
"cds_start": 509,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028109.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "c.412-13248C>T",
"hgvs_p": null,
"transcript": "ENST00000956507.1",
"protein_id": "ENSP00000626566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956507.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"hgvs_c": "n.450C>T",
"hgvs_p": null,
"transcript": "ENST00000435864.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435864.2"
}
],
"gene_symbol": "TOX2",
"gene_hgnc_id": 16095,
"dbsnp": "rs375617057",
"frequency_reference_population": 0.00006820822,
"hom_count_reference_population": 0,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.0000712367,
"gnomad_genomes_af": 0.0000394311,
"gnomad_exomes_ac": 103,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08797803521156311,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.1183,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.014,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098797.2",
"gene_symbol": "TOX2",
"hgnc_id": 16095,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Ser212Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}