← Back to variant description
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: 1-179884747-C-CTCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179884747&ref=C&alt=CTCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179884747,
"ref": "C",
"alt": "CTCA",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000606911.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "SR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.531_532insTCA",
"hgvs_p": "p.Val177_Arg178insSer",
"transcript": "NM_015602.4",
"protein_id": "NP_056417.2",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 583,
"cds_start": 532,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": "ENST00000606911.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "SR",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.531_532insTCA",
"hgvs_p": "p.Val177_Arg178insSer",
"transcript": "ENST00000606911.7",
"protein_id": "ENSP00000476687.1",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 583,
"cds_start": 532,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": "NM_015602.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "SR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.168_169insTCA",
"hgvs_p": "p.Val56_Arg57insSer",
"transcript": "ENST00000435319.8",
"protein_id": "ENSP00000393292.3",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 462,
"cds_start": 169,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "SR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.531_532insTCA",
"hgvs_p": "p.Val177_Arg178insSer",
"transcript": "ENST00000271583.7",
"protein_id": "ENSP00000271583.3",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 599,
"cds_start": 532,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "SR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.531_532insTCA",
"hgvs_p": "p.Val177_Arg178insSer",
"transcript": "NM_001267578.2",
"protein_id": "NP_001254507.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 584,
"cds_start": 532,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "SR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.531_532insTCA",
"hgvs_p": "p.Val177_Arg178insSer",
"transcript": "ENST00000528443.6",
"protein_id": "ENSP00000435365.2",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 584,
"cds_start": 532,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "SR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.159_160insTCA",
"hgvs_p": "p.Val53_Arg54insSer",
"transcript": "ENST00000527391.5",
"protein_id": "ENSP00000432717.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 196,
"cds_start": 160,
"cds_end": null,
"cds_length": 592,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "SR",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "c.240_241insTCA",
"hgvs_p": "p.Val80_Arg81insSer",
"transcript": "ENST00000531630.6",
"protein_id": "ENSP00000434316.2",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 192,
"cds_start": 241,
"cds_end": null,
"cds_length": 579,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 579,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "n.123_124insTCA",
"hgvs_p": null,
"transcript": "ENST00000474875.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 830,
"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": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "n.100_101insTCA",
"hgvs_p": null,
"transcript": "ENST00000524653.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 544,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "n.148_149insTCA",
"hgvs_p": null,
"transcript": "ENST00000527867.5",
"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": 486,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "n.*131_*132insTCA",
"hgvs_p": null,
"transcript": "ENST00000529091.5",
"protein_id": "ENSP00000433759.1",
"transcript_support_level": 4,
"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": 587,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "n.117_118insTCA",
"hgvs_p": null,
"transcript": "ENST00000531726.5",
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"hgvs_c": "n.*131_*132insTCA",
"hgvs_p": null,
"transcript": "ENST00000529091.5",
"protein_id": "ENSP00000433759.1",
"transcript_support_level": 4,
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TOR1AIP1",
"gene_hgnc_id": 29456,
"dbsnp": "rs145521179",
"frequency_reference_population": 0.00048832974,
"hom_count_reference_population": 5,
"allele_count_reference_population": 787,
"gnomad_exomes_af": 0.000466658,
"gnomad_genomes_af": 0.000695976,
"gnomad_exomes_ac": 681,
"gnomad_genomes_ac": 106,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 2,
"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": 0.115,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000606911.7",
"gene_symbol": "TOR1AIP1",
"hgnc_id": 29456,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.531_532insTCA",
"hgvs_p": "p.Val177_Arg178insSer"
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2Y,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2Y|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}