← 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: 16-27775054-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27775054&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 27775054,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000261588.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4420delA",
"hgvs_p": "p.Met1474fs",
"transcript": "NM_015202.5",
"protein_id": "NP_056017.4",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4420,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 4447,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": "ENST00000261588.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4420delA",
"hgvs_p": "p.Met1474fs",
"transcript": "ENST00000261588.10",
"protein_id": "ENSP00000261588.4",
"transcript_support_level": 1,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4420,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 4447,
"cdna_end": null,
"cdna_length": 6599,
"mane_select": "NM_015202.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4603delA",
"hgvs_p": "p.Met1535fs",
"transcript": "XM_005255201.4",
"protein_id": "XP_005255258.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4603,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4630,
"cdna_end": null,
"cdna_length": 6782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4549delA",
"hgvs_p": "p.Met1517fs",
"transcript": "XM_005255202.4",
"protein_id": "XP_005255259.1",
"transcript_support_level": null,
"aa_start": 1517,
"aa_end": null,
"aa_length": 1661,
"cds_start": 4549,
"cds_end": null,
"cds_length": 4986,
"cdna_start": 4576,
"cdna_end": null,
"cdna_length": 6728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4525delA",
"hgvs_p": "p.Met1509fs",
"transcript": "XM_011545773.3",
"protein_id": "XP_011544075.1",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 1653,
"cds_start": 4525,
"cds_end": null,
"cds_length": 4962,
"cdna_start": 4616,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4525delA",
"hgvs_p": "p.Met1509fs",
"transcript": "XM_011545774.3",
"protein_id": "XP_011544076.1",
"transcript_support_level": null,
"aa_start": 1509,
"aa_end": null,
"aa_length": 1653,
"cds_start": 4525,
"cds_end": null,
"cds_length": 4962,
"cdna_start": 4574,
"cdna_end": null,
"cdna_length": 6726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4483delA",
"hgvs_p": "p.Met1495fs",
"transcript": "XM_011545775.3",
"protein_id": "XP_011544077.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4483,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 4510,
"cdna_end": null,
"cdna_length": 6662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4474delA",
"hgvs_p": "p.Met1492fs",
"transcript": "XM_005255203.4",
"protein_id": "XP_005255260.1",
"transcript_support_level": null,
"aa_start": 1492,
"aa_end": null,
"aa_length": 1636,
"cds_start": 4474,
"cds_end": null,
"cds_length": 4911,
"cdna_start": 4501,
"cdna_end": null,
"cdna_length": 6653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4471delA",
"hgvs_p": "p.Met1491fs",
"transcript": "XM_011545776.3",
"protein_id": "XP_011544078.1",
"transcript_support_level": null,
"aa_start": 1491,
"aa_end": null,
"aa_length": 1635,
"cds_start": 4471,
"cds_end": null,
"cds_length": 4908,
"cdna_start": 4498,
"cdna_end": null,
"cdna_length": 6650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4417delA",
"hgvs_p": "p.Met1473fs",
"transcript": "XM_024450216.2",
"protein_id": "XP_024305984.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4417,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 4444,
"cdna_end": null,
"cdna_length": 6596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4354delA",
"hgvs_p": "p.Met1452fs",
"transcript": "XM_017023085.2",
"protein_id": "XP_016878574.1",
"transcript_support_level": null,
"aa_start": 1452,
"aa_end": null,
"aa_length": 1596,
"cds_start": 4354,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 4381,
"cdna_end": null,
"cdna_length": 6533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4351delA",
"hgvs_p": "p.Met1451fs",
"transcript": "XM_047433842.1",
"protein_id": "XP_047289798.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1595,
"cds_start": 4351,
"cds_end": null,
"cds_length": 4788,
"cdna_start": 4378,
"cdna_end": null,
"cdna_length": 6530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4342delA",
"hgvs_p": "p.Met1448fs",
"transcript": "XM_006721025.4",
"protein_id": "XP_006721088.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1592,
"cds_start": 4342,
"cds_end": null,
"cds_length": 4779,
"cdna_start": 4369,
"cdna_end": null,
"cdna_length": 6521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4288delA",
"hgvs_p": "p.Met1430fs",
"transcript": "XM_017023087.2",
"protein_id": "XP_016878576.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1574,
"cds_start": 4288,
"cds_end": null,
"cds_length": 4725,
"cdna_start": 4315,
"cdna_end": null,
"cdna_length": 6467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.4222delA",
"hgvs_p": "p.Met1408fs",
"transcript": "XM_047433843.1",
"protein_id": "XP_047289799.1",
"transcript_support_level": null,
"aa_start": 1408,
"aa_end": null,
"aa_length": 1552,
"cds_start": 4222,
"cds_end": null,
"cds_length": 4659,
"cdna_start": 4249,
"cdna_end": null,
"cdna_length": 6401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.3937delA",
"hgvs_p": "p.Met1313fs",
"transcript": "XM_047433844.1",
"protein_id": "XP_047289800.1",
"transcript_support_level": null,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1457,
"cds_start": 3937,
"cds_end": null,
"cds_length": 4374,
"cdna_start": 4553,
"cdna_end": null,
"cdna_length": 6705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.3298delA",
"hgvs_p": "p.Met1100fs",
"transcript": "XM_047433845.1",
"protein_id": "XP_047289801.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3465,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.3199delA",
"hgvs_p": "p.Met1067fs",
"transcript": "XM_005255208.3",
"protein_id": "XP_005255265.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3344,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"hgvs_c": "c.2524delA",
"hgvs_p": "p.Met842fs",
"transcript": "XM_011545777.3",
"protein_id": "XP_011544079.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 986,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2773,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KATNIP",
"gene_hgnc_id": 29068,
"dbsnp": "rs1555497891",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"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": 5.944,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000261588.10",
"gene_symbol": "KATNIP",
"hgnc_id": 29068,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4420delA",
"hgvs_p": "p.Met1474fs"
}
],
"clinvar_disease": "Joubert syndrome 26",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Joubert syndrome 26",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}