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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: 22-41436315-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41436315&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TOB2",
"hgnc_id": 11980,
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_016272.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9736,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8071295022964478,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_016272.4",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327492.4",
"protein_coding": true,
"protein_id": "NP_057356.1",
"strand": false,
"transcript": "NM_016272.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000327492.4",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016272.4",
"protein_coding": true,
"protein_id": "ENSP00000331305.3",
"strand": false,
"transcript": "ENST00000327492.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4327,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000434408.2",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388549.2",
"strand": false,
"transcript": "ENST00000434408.2",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4333,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901391.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571450.1",
"strand": false,
"transcript": "ENST00000901391.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901392.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571451.1",
"strand": false,
"transcript": "ENST00000901392.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901393.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571452.1",
"strand": false,
"transcript": "ENST00000901393.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4256,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901394.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571453.1",
"strand": false,
"transcript": "ENST00000901394.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000901395.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571454.1",
"strand": false,
"transcript": "ENST00000901395.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000901396.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571455.1",
"strand": false,
"transcript": "ENST00000901396.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1555,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000901397.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571456.1",
"strand": false,
"transcript": "ENST00000901397.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 1369,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901398.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571457.1",
"strand": false,
"transcript": "ENST00000901398.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937566.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607625.1",
"strand": false,
"transcript": "ENST00000937566.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937567.1",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607626.1",
"strand": false,
"transcript": "ENST00000937567.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005261315.3",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005261372.1",
"strand": false,
"transcript": "XM_005261315.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5075,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006724105.4",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724168.1",
"strand": false,
"transcript": "XM_006724105.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 344,
"aa_ref": "N",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5423,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 1035,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017028539.2",
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"hgvs_c": "c.1031A>T",
"hgvs_p": "p.Asn344Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884028.1",
"strand": false,
"transcript": "XM_017028539.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200620356",
"effect": "missense_variant",
"frequency_reference_population": 7.1036953e-7,
"gene_hgnc_id": 11980,
"gene_symbol": "TOB2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.1037e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"pos": 41436315,
"ref": "T",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.541,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_016272.4"
}
]
}