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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: 22-41436549-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41436549&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41436549,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016272.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "NM_016272.4",
"protein_id": "NP_057356.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327492.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016272.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000327492.4",
"protein_id": "ENSP00000331305.3",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016272.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327492.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000434408.2",
"protein_id": "ENSP00000388549.2",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434408.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000901391.1",
"protein_id": "ENSP00000571450.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901391.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000901392.1",
"protein_id": "ENSP00000571451.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901392.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000901393.1",
"protein_id": "ENSP00000571452.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901393.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000901394.1",
"protein_id": "ENSP00000571453.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901394.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000901395.1",
"protein_id": "ENSP00000571454.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901395.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000901396.1",
"protein_id": "ENSP00000571455.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901396.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000901397.1",
"protein_id": "ENSP00000571456.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901397.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000901398.1",
"protein_id": "ENSP00000571457.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901398.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000937566.1",
"protein_id": "ENSP00000607625.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937566.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "ENST00000937567.1",
"protein_id": "ENSP00000607626.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937567.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "XM_005261315.3",
"protein_id": "XP_005261372.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261315.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "XM_006724105.4",
"protein_id": "XP_006724168.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724105.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp",
"transcript": "XM_017028539.2",
"protein_id": "XP_016884028.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 344,
"cds_start": 797,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028539.2"
}
],
"gene_symbol": "TOB2",
"gene_hgnc_id": 11980,
"dbsnp": "rs1444995543",
"frequency_reference_population": 6.8621466e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86215e-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": 0.3009446859359741,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.271,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.831,
"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": "NM_016272.4",
"gene_symbol": "TOB2",
"hgnc_id": 11980,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Gly266Asp"
}
],
"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
}