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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: 22-19765921-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19765921&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 19765921,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000649276.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Gly319Ser",
"transcript": "NM_001379200.1",
"protein_id": "NP_001366129.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 504,
"cds_start": 955,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": "ENST00000649276.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Gly319Ser",
"transcript": "ENST00000649276.2",
"protein_id": "ENSP00000497003.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 504,
"cds_start": 955,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": "NM_001379200.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Ser",
"transcript": "ENST00000332710.8",
"protein_id": "ENSP00000331791.4",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 495,
"cds_start": 928,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Ser",
"transcript": "ENST00000329705.11",
"protein_id": "ENSP00000331176.7",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 928,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Ser",
"transcript": "ENST00000359500.7",
"protein_id": "ENSP00000352483.3",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 372,
"cds_start": 928,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Ser",
"transcript": "NM_080647.1",
"protein_id": "NP_542378.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 495,
"cds_start": 928,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Ser",
"transcript": "NM_080646.2",
"protein_id": "NP_542377.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 398,
"cds_start": 928,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Ser",
"transcript": "NM_005992.1",
"protein_id": "NP_005983.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 372,
"cds_start": 928,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Gly161Ser",
"transcript": "ENST00000700274.1",
"protein_id": "ENSP00000514909.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 186,
"cds_start": 481,
"cds_end": null,
"cds_length": 562,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Ser",
"transcript": "XM_017028927.2",
"protein_id": "XP_016884416.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 522,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Ser",
"transcript": "XM_006724312.3",
"protein_id": "XP_006724375.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 495,
"cds_start": 928,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Ser",
"transcript": "XM_017028926.2",
"protein_id": "XP_016884415.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 495,
"cds_start": 928,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 2228,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"hgvs_c": "n.123G>A",
"hgvs_p": null,
"transcript": "ENST00000484336.1",
"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": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBX1",
"gene_hgnc_id": 11592,
"dbsnp": "rs41298838",
"frequency_reference_population": 0.0014341073,
"hom_count_reference_population": 71,
"allele_count_reference_population": 2202,
"gnomad_exomes_af": 0.00137267,
"gnomad_genomes_af": 0.00199321,
"gnomad_exomes_ac": 1899,
"gnomad_genomes_ac": 303,
"gnomad_exomes_homalt": 66,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0026478171348571777,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.35,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1584,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.032,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000649276.2",
"gene_symbol": "TBX1",
"hgnc_id": 11592,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Gly319Ser"
}
],
"clinvar_disease": "Cardiovascular phenotype,DiGeorge syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "DiGeorge syndrome|Cardiovascular phenotype|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}