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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: 2-15167120-CAGA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=15167120&ref=CAGA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 15167120,
"ref": "CAGA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_015909.4",
"consequences": [
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.7041_7043delTCT",
"hgvs_p": "p.Leu2348del",
"transcript": "NM_015909.4",
"protein_id": "NP_056993.2",
"transcript_support_level": null,
"aa_start": 2347,
"aa_end": null,
"aa_length": 2371,
"cds_start": 7041,
"cds_end": null,
"cds_length": 7116,
"cdna_start": 7073,
"cdna_end": null,
"cdna_length": 7278,
"mane_select": "ENST00000281513.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.7041_7043delTCT",
"hgvs_p": "p.Leu2348del",
"transcript": "ENST00000281513.10",
"protein_id": "ENSP00000281513.5",
"transcript_support_level": 1,
"aa_start": 2347,
"aa_end": null,
"aa_length": 2371,
"cds_start": 7041,
"cds_end": null,
"cds_length": 7116,
"cdna_start": 7073,
"cdna_end": null,
"cdna_length": 7278,
"mane_select": "NM_015909.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.4182_4184delTCT",
"hgvs_p": "p.Leu1395del",
"transcript": "ENST00000442506.5",
"protein_id": "ENSP00000398411.1",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1418,
"cds_start": 4182,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 4186,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.5025_5027delTCT",
"hgvs_p": "p.Leu1676del",
"transcript": "ENST00000700061.1",
"protein_id": "ENSP00000514776.1",
"transcript_support_level": null,
"aa_start": 1675,
"aa_end": null,
"aa_length": 1699,
"cds_start": 5025,
"cds_end": null,
"cds_length": 5100,
"cdna_start": 5029,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.1551_1553delTCT",
"hgvs_p": "p.Leu518del",
"transcript": "ENST00000700063.1",
"protein_id": "ENSP00000514778.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 541,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.480_482delTCT",
"hgvs_p": "p.Leu161del",
"transcript": "ENST00000433283.5",
"protein_id": "ENSP00000390920.1",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 184,
"cds_start": 480,
"cds_end": null,
"cds_length": 555,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6912_6914delTCT",
"hgvs_p": "p.Leu2305del",
"transcript": "XM_011510357.3",
"protein_id": "XP_011508659.1",
"transcript_support_level": null,
"aa_start": 2304,
"aa_end": null,
"aa_length": 2328,
"cds_start": 6912,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 6944,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6912_6914delTCT",
"hgvs_p": "p.Leu2305del",
"transcript": "XM_011510358.3",
"protein_id": "XP_011508660.1",
"transcript_support_level": null,
"aa_start": 2304,
"aa_end": null,
"aa_length": 2328,
"cds_start": 6912,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 6944,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6783_6785delTCT",
"hgvs_p": "p.Leu2262del",
"transcript": "XM_047444734.1",
"protein_id": "XP_047300690.1",
"transcript_support_level": null,
"aa_start": 2261,
"aa_end": null,
"aa_length": 2285,
"cds_start": 6783,
"cds_end": null,
"cds_length": 6858,
"cdna_start": 6815,
"cdna_end": null,
"cdna_length": 7020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6402_6404delTCT",
"hgvs_p": "p.Leu2135del",
"transcript": "XM_047444735.1",
"protein_id": "XP_047300691.1",
"transcript_support_level": null,
"aa_start": 2134,
"aa_end": null,
"aa_length": 2158,
"cds_start": 6402,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 6488,
"cdna_end": null,
"cdna_length": 6693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.4842_4844delTCT",
"hgvs_p": "p.Leu1615del",
"transcript": "XM_011510360.3",
"protein_id": "XP_011508662.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4842,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 4908,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LL",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.4833_4835delTCT",
"hgvs_p": "p.Leu1612del",
"transcript": "XM_011510361.3",
"protein_id": "XP_011508663.1",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1635,
"cds_start": 4833,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 4899,
"cdna_end": null,
"cdna_length": 5104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.1592_1594delTCT",
"hgvs_p": null,
"transcript": "ENST00000485694.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.*605_*607delTCT",
"hgvs_p": null,
"transcript": "ENST00000700062.1",
"protein_id": "ENSP00000514777.1",
"transcript_support_level": null,
"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": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.*341_*343delTCT",
"hgvs_p": null,
"transcript": "ENST00000700064.1",
"protein_id": "ENSP00000514779.1",
"transcript_support_level": null,
"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": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.6875_6877delTCT",
"hgvs_p": null,
"transcript": "NR_052013.3",
"protein_id": null,
"transcript_support_level": null,
"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": 7082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.*605_*607delTCT",
"hgvs_p": null,
"transcript": "ENST00000700062.1",
"protein_id": "ENSP00000514777.1",
"transcript_support_level": null,
"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": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.*341_*343delTCT",
"hgvs_p": null,
"transcript": "ENST00000700064.1",
"protein_id": "ENSP00000514779.1",
"transcript_support_level": null,
"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": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6840+11865_6840+11867delTCT",
"hgvs_p": null,
"transcript": "XM_017004317.2",
"protein_id": "XP_016859806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2293,
"cds_start": -4,
"cds_end": null,
"cds_length": 6882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "c.6840+11865_6840+11867delTCT",
"hgvs_p": null,
"transcript": "XM_047444733.1",
"protein_id": "XP_047300689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2293,
"cds_start": -4,
"cds_end": null,
"cds_length": 6882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 51,
"intron_rank_end": null,
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"hgvs_c": "n.6870+11865_6870+11867delTCT",
"hgvs_p": null,
"transcript": "XR_007076390.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NBAS",
"gene_hgnc_id": 15625,
"dbsnp": "rs1485416933",
"frequency_reference_population": 0.000009293922,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957781,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"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,
"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": 8.686,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015909.4",
"gene_symbol": "NBAS",
"hgnc_id": 15625,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7041_7043delTCT",
"hgvs_p": "p.Leu2348del"
}
],
"clinvar_disease": "Infantile liver failure syndrome 2,Short stature-optic atrophy-Pelger-Huët anomaly syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:2",
"phenotype_combined": "not provided|not specified|Infantile liver failure syndrome 2;Short stature-optic atrophy-Pelger-Huët anomaly syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}