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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: 3-121770373-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121770373&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121770373,
"ref": "A",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_001023570.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Leu590*",
"transcript": "NM_001023570.4",
"protein_id": "NP_001018864.2",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 598,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310864.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001023570.4"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Leu590*",
"transcript": "ENST00000310864.11",
"protein_id": "ENSP00000311505.6",
"transcript_support_level": 1,
"aa_start": 590,
"aa_end": null,
"aa_length": 598,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001023570.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310864.11"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1370T>G",
"hgvs_p": "p.Leu457*",
"transcript": "ENST00000349820.10",
"protein_id": "ENSP00000323756.7",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 465,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349820.10"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1841T>G",
"hgvs_p": "p.Leu614*",
"transcript": "ENST00000923631.1",
"protein_id": "ENSP00000593690.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 622,
"cds_start": 1841,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923631.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1787T>G",
"hgvs_p": "p.Leu596*",
"transcript": "ENST00000965827.1",
"protein_id": "ENSP00000635886.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 604,
"cds_start": 1787,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965827.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Leu590*",
"transcript": "NM_001319107.2",
"protein_id": "NP_001306036.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 598,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319107.2"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Leu590*",
"transcript": "ENST00000908847.1",
"protein_id": "ENSP00000578906.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 598,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908847.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Leu590*",
"transcript": "ENST00000923629.1",
"protein_id": "ENSP00000593688.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 598,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923629.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Leu590*",
"transcript": "ENST00000923632.1",
"protein_id": "ENSP00000593691.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 598,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923632.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Leu590*",
"transcript": "ENST00000965828.1",
"protein_id": "ENSP00000635887.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 598,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965828.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1688T>G",
"hgvs_p": "p.Leu563*",
"transcript": "ENST00000923630.1",
"protein_id": "ENSP00000593689.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 571,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923630.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1388T>G",
"hgvs_p": "p.Leu463*",
"transcript": "ENST00000965826.1",
"protein_id": "ENSP00000635885.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 471,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965826.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1370T>G",
"hgvs_p": "p.Leu457*",
"transcript": "NM_001023571.4",
"protein_id": "NP_001018865.2",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 465,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001023571.4"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Leu406*",
"transcript": "XM_047449250.1",
"protein_id": "XP_047305206.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 414,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449250.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.1217T>G",
"hgvs_p": "p.Leu406*",
"transcript": "XM_047449251.1",
"protein_id": "XP_047305207.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 414,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.*187T>G",
"hgvs_p": null,
"transcript": "XM_005247911.5",
"protein_id": "XP_005247968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": null,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247911.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.*187T>G",
"hgvs_p": null,
"transcript": "XM_017007539.3",
"protein_id": "XP_016863028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007539.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "n.*747T>G",
"hgvs_p": null,
"transcript": "ENST00000393650.7",
"protein_id": "ENSP00000377261.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000393650.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "n.1854T>G",
"hgvs_p": null,
"transcript": "NR_134968.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134968.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "n.*747T>G",
"hgvs_p": null,
"transcript": "ENST00000393650.7",
"protein_id": "ENSP00000377261.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000393650.7"
}
],
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"dbsnp": "rs1947917811",
"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": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"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": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.573,
"phylop100way_prediction": "Uncertain_significance",
"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": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001023570.4",
"gene_symbol": "IQCB1",
"hgnc_id": 28949,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1769T>G",
"hgvs_p": "p.Leu590*"
}
],
"clinvar_disease": "Nephronophthisis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Nephronophthisis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}