← 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: 1-99892561-TGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=99892561&ref=TGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 99892561,
"ref": "TGA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000361915.8",
"consequences": [
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "NM_000642.3",
"protein_id": "NP_000633.2",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 7091,
"mane_select": "ENST00000361915.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "ENST00000361915.8",
"protein_id": "ENSP00000355106.3",
"transcript_support_level": 1,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 7091,
"mane_select": "NM_000642.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "ENST00000294724.8",
"protein_id": "ENSP00000294724.4",
"transcript_support_level": 1,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3694,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "ENST00000370163.7",
"protein_id": "ENSP00000359182.3",
"transcript_support_level": 1,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3414,
"cdna_end": null,
"cdna_length": 7166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "ENST00000370165.7",
"protein_id": "ENSP00000359184.3",
"transcript_support_level": 1,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 7106,
"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": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.*3152_*3153delGA",
"hgvs_p": null,
"transcript": "ENST00000361302.7",
"protein_id": "ENSP00000354971.4",
"transcript_support_level": 1,
"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": 7179,
"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": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.3427_3428delGA",
"hgvs_p": null,
"transcript": "ENST00000637337.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 7179,
"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": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.*3152_*3153delGA",
"hgvs_p": null,
"transcript": "ENST00000361302.7",
"protein_id": "ENSP00000354971.4",
"transcript_support_level": 1,
"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": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "NM_000028.3",
"protein_id": "NP_000019.2",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3562,
"cdna_end": null,
"cdna_length": 7314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "NM_000643.3",
"protein_id": "NP_000634.2",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 7294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "NM_000644.3",
"protein_id": "NP_000635.2",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 7234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "NM_001425325.1",
"protein_id": "NP_001412254.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 3279,
"cdna_end": null,
"cdna_length": 7031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3195_3196delGA",
"hgvs_p": "p.Glu1065fs",
"transcript": "NM_001425326.1",
"protein_id": "NP_001412255.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3195,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 7070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3168_3169delGA",
"hgvs_p": "p.Glu1056fs",
"transcript": "NM_000646.3",
"protein_id": "NP_000637.2",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3168,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 3482,
"cdna_end": null,
"cdna_length": 7234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3168_3169delGA",
"hgvs_p": "p.Glu1056fs",
"transcript": "ENST00000370161.6",
"protein_id": "ENSP00000359180.2",
"transcript_support_level": 5,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3168,
"cds_end": null,
"cds_length": 4551,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 6923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3015_3016delGA",
"hgvs_p": "p.Glu1005fs",
"transcript": "NM_001425327.1",
"protein_id": "NP_001412256.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1465,
"cds_start": 3015,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 3138,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3012_3013delGA",
"hgvs_p": "p.Glu1004fs",
"transcript": "NM_001425328.1",
"protein_id": "NP_001412257.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1464,
"cds_start": 3012,
"cds_end": null,
"cds_length": 4395,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 6887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.2877_2878delGA",
"hgvs_p": "p.Glu959fs",
"transcript": "NM_001425329.1",
"protein_id": "NP_001412258.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1419,
"cds_start": 2877,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 6752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.2838_2839delGA",
"hgvs_p": "p.Glu946fs",
"transcript": "NM_001425332.1",
"protein_id": "NP_001412261.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1406,
"cds_start": 2838,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 2961,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs",
"transcript": "XM_005270557.3",
"protein_id": "XP_005270614.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3216,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 7883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.1476_1477delGA",
"hgvs_p": "p.Glu492fs",
"transcript": "XM_017000501.3",
"protein_id": "XP_016855990.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 952,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 5261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"dbsnp": "rs771069887",
"frequency_reference_population": 0.0000080562995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000054743,
"gnomad_genomes_af": 0.0000328364,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.277,
"phylop100way_prediction": "Benign",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000361915.8",
"gene_symbol": "AGL",
"hgnc_id": 321,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3216_3217delGA",
"hgvs_p": "p.Glu1072fs"
}
],
"clinvar_disease": "Glycogen storage disease IIIa,Glycogen storage disease type III,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8",
"phenotype_combined": "not provided|Glycogen storage disease IIIa|Glycogen storage disease type III",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}