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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: 11-67490802-T-TACTTCAAGCGGGGCAAGGCCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67490802&ref=T&alt=TACTTCAAGCGGGGCAAGGCCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67490802,
"ref": "T",
"alt": "TACTTCAAGCGGGGCAAGGCCC",
"effect": "conservative_inframe_insertion",
"transcript": "NM_003977.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.805_825dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe269_His275dup",
"transcript": "NM_003977.4",
"protein_id": "NP_003968.3",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 330,
"cds_start": 826,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000279146.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003977.4"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.805_825dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe269_His275dup",
"transcript": "ENST00000279146.8",
"protein_id": "ENSP00000279146.3",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 330,
"cds_start": 826,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003977.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279146.8"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.895_915dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe299_His305dup",
"transcript": "ENST00000934218.1",
"protein_id": "ENSP00000604277.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 360,
"cds_start": 916,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934218.1"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.799_819dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe267_His273dup",
"transcript": "ENST00000872352.1",
"protein_id": "ENSP00000542411.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 328,
"cds_start": 820,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872352.1"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.805_825dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe269_His275dup",
"transcript": "ENST00000682699.1",
"protein_id": "ENSP00000507935.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 314,
"cds_start": 826,
"cds_end": null,
"cds_length": 946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682699.1"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.721_741dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe241_His247dup",
"transcript": "ENST00000872353.1",
"protein_id": "ENSP00000542412.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 302,
"cds_start": 742,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872353.1"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.628_648dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe210_His216dup",
"transcript": "NM_001302959.2",
"protein_id": "NP_001289888.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 271,
"cds_start": 649,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302959.2"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.628_648dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe210_His216dup",
"transcript": "ENST00000683856.1",
"protein_id": "ENSP00000507979.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 271,
"cds_start": 649,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683856.1"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.625_645dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe209_His215dup",
"transcript": "ENST00000684657.1",
"protein_id": "ENSP00000507961.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 270,
"cds_start": 646,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684657.1"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.616_636dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe206_His212dup",
"transcript": "ENST00000528641.7",
"protein_id": "ENSP00000434982.3",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 267,
"cds_start": 637,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528641.7"
},
{
"aa_ref": "A",
"aa_alt": "FKRGKAHA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.436_456dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe146_His152dup",
"transcript": "ENST00000682659.1",
"protein_id": "ENSP00000507351.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 207,
"cds_start": 457,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682659.1"
},
{
"aa_ref": "R",
"aa_alt": "LQAGQGPR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.797_817dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Leu266_Pro272dup",
"transcript": "NM_001302960.2",
"protein_id": "NP_001289889.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 283,
"cds_start": 818,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302960.2"
},
{
"aa_ref": "R",
"aa_alt": "LQAGQGPR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.797_817dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Leu266_Pro272dup",
"transcript": "ENST00000683237.1",
"protein_id": "ENSP00000507343.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 283,
"cds_start": 818,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683237.1"
},
{
"aa_ref": "R",
"aa_alt": "LQAGQGPR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.794_814dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Leu265_Pro271dup",
"transcript": "ENST00000684006.1",
"protein_id": "ENSP00000507269.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 282,
"cds_start": 815,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.*220_*240dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": null,
"transcript": "ENST00000525341.2",
"protein_id": "ENSP00000476993.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525341.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.646-51_646-31dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": null,
"transcript": "ENST00000934217.1",
"protein_id": "ENSP00000604276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": null,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934217.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "c.469-192_469-172dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": null,
"transcript": "ENST00000682324.1",
"protein_id": "ENSP00000508017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"hgvs_c": "n.1647_1667dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": null,
"transcript": "ENST00000529797.2",
"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": "retained_intron",
"feature": "ENST00000529797.2"
}
],
"gene_symbol": "AIP",
"gene_hgnc_id": 358,
"dbsnp": "rs267606578",
"frequency_reference_population": 0.0000061646538,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000616465,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.188,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM4,PP5_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 4,
"pathogenic_score": 10,
"criteria": [
"PM4",
"PP5_Very_Strong",
"BS2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003977.4",
"gene_symbol": "AIP",
"hgnc_id": 358,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.805_825dupTTCAAGCGGGGCAAGGCCCAC",
"hgvs_p": "p.Phe269_His275dup"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Somatotroph adenoma,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 O:1",
"phenotype_combined": "Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}