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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: 3-121772604-CTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121772604&ref=CTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Strong",
"PS3",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "IQCB1",
"hgnc_id": 28949,
"hgvs_c": "c.1518_1519delCA",
"hgvs_p": "p.His506fs",
"inheritance_mode": "AD,AR",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_001023570.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PS3,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 157,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "IQCB1-related disorder,Nephronophthisis,Retinal dystrophy,Retinitis pigmentosa,Senior-Loken syndrome 5,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:10",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": "HR",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1518,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001023570.4",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1518_1519delCA",
"hgvs_p": "p.His506fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310864.11",
"protein_coding": true,
"protein_id": "NP_001018864.2",
"strand": false,
"transcript": "NM_001023570.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": "HR",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1518,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000310864.11",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1518_1519delCA",
"hgvs_p": "p.His506fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001023570.4",
"protein_coding": true,
"protein_id": "ENSP00000311505.6",
"strand": false,
"transcript": "ENST00000310864.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 465,
"aa_ref": "HR",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1119,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000349820.10",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1119_1120delCA",
"hgvs_p": "p.His373fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323756.7",
"strand": false,
"transcript": "ENST00000349820.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": "HR",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1590,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000923631.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1590_1591delCA",
"hgvs_p": "p.His530fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593690.1",
"strand": false,
"transcript": "ENST00000923631.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 604,
"aa_ref": "HR",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1536,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000965827.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1536_1537delCA",
"hgvs_p": "p.His512fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635886.1",
"strand": false,
"transcript": "ENST00000965827.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": "HR",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 1714,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1518,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001319107.2",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1518_1519delCA",
"hgvs_p": "p.His506fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306036.1",
"strand": false,
"transcript": "NM_001319107.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": "HR",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1518,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000908847.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1518_1519delCA",
"hgvs_p": "p.His506fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578906.1",
"strand": false,
"transcript": "ENST00000908847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": "HR",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1518,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000923629.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1518_1519delCA",
"hgvs_p": "p.His506fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593688.1",
"strand": false,
"transcript": "ENST00000923629.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": "HR",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6101,
"cdna_start": 5477,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1518,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000923632.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1518_1519delCA",
"hgvs_p": "p.His506fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593691.1",
"strand": false,
"transcript": "ENST00000923632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 598,
"aa_ref": "HR",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1815,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1518,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000965828.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1518_1519delCA",
"hgvs_p": "p.His506fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635887.1",
"strand": false,
"transcript": "ENST00000965828.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 571,
"aa_ref": "HR",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1437,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000923630.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1437_1438delCA",
"hgvs_p": "p.His479fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593689.1",
"strand": false,
"transcript": "ENST00000923630.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 471,
"aa_ref": "HR",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1137,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000965826.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1137_1138delCA",
"hgvs_p": "p.His379fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635885.1",
"strand": false,
"transcript": "ENST00000965826.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 465,
"aa_ref": "HR",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1119,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001023571.4",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1119_1120delCA",
"hgvs_p": "p.His373fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001018865.2",
"strand": false,
"transcript": "NM_001023571.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 414,
"aa_ref": "HR",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1245,
"cds_start": 966,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047449250.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.966_967delCA",
"hgvs_p": "p.His322fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305206.1",
"strand": false,
"transcript": "XM_047449250.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 414,
"aa_ref": "HR",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2115,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1245,
"cds_start": 966,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047449251.1",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.966_967delCA",
"hgvs_p": "p.His322fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305207.1",
"strand": false,
"transcript": "XM_047449251.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 474,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": null,
"cds_end": null,
"cds_length": 1425,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005247911.5",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1411-2032_1411-2031delCA",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247968.1",
"strand": false,
"transcript": "XM_005247911.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007539.3",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "c.1012-2032_1012-2031delCA",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863028.1",
"strand": false,
"transcript": "XM_017007539.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000393650.7",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "n.*496_*497delCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000377261.3",
"strand": false,
"transcript": "ENST00000393650.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NR_134968.2",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "n.1603_1604delCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_134968.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000393650.7",
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"hgvs_c": "n.*496_*497delCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000377261.3",
"strand": false,
"transcript": "ENST00000393650.7",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs398123538",
"effect": "frameshift_variant",
"frequency_reference_population": 0.000097265656,
"gene_hgnc_id": 28949,
"gene_symbol": "IQCB1",
"gnomad_exomes_ac": 147,
"gnomad_exomes_af": 0.000100554,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 10,
"gnomad_genomes_af": 0.0000656849,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Retinitis pigmentosa|Senior-Loken syndrome 5|not provided|Nephronophthisis|Retinal dystrophy|IQCB1-related disorder",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.094,
"pos": 121772604,
"ref": "CTG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001023570.4"
}
]
}