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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: 9-71697989-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=71697989&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CEMIP2",
"hgnc_id": 11869,
"hgvs_c": "c.3593G>T",
"hgvs_p": "p.Arg1198Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_013390.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1001,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09053999185562134,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "R",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 3762,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3593,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_013390.3",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3593G>T",
"hgvs_p": "p.Arg1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377044.9",
"protein_coding": true,
"protein_id": "NP_037522.1",
"strand": false,
"transcript": "NM_013390.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "R",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 3762,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3593,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000377044.9",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3593G>T",
"hgvs_p": "p.Arg1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013390.3",
"protein_coding": true,
"protein_id": "ENSP00000366243.4",
"strand": false,
"transcript": "ENST00000377044.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5217,
"cdna_start": 3446,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3404,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000377066.9",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3404G>T",
"hgvs_p": "p.Arg1135Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366266.5",
"strand": false,
"transcript": "ENST00000377066.9",
"transcript_support_level": 1
},
{
"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": 5372,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000542935.5",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "n.*1816G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437750.1",
"strand": false,
"transcript": "ENST00000542935.5",
"transcript_support_level": 1
},
{
"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": 5372,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000542935.5",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "n.*1816G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437750.1",
"strand": false,
"transcript": "ENST00000542935.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1389,
"aa_ref": "R",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 3876,
"cds_end": null,
"cds_length": 4170,
"cds_start": 3593,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000971297.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3593G>T",
"hgvs_p": "p.Arg1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641356.1",
"strand": false,
"transcript": "ENST00000971297.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "R",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6091,
"cdna_start": 3700,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3593,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000853336.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3593G>T",
"hgvs_p": "p.Arg1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523395.1",
"strand": false,
"transcript": "ENST00000853336.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5963,
"cdna_start": 3573,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3404,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001135820.2",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3404G>T",
"hgvs_p": "p.Arg1135Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129292.1",
"strand": false,
"transcript": "NM_001135820.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 3541,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3404,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000911423.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3404G>T",
"hgvs_p": "p.Arg1135Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581482.1",
"strand": false,
"transcript": "ENST00000911423.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "R",
"aa_start": 884,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5210,
"cdna_start": 2820,
"cds_end": null,
"cds_length": 3210,
"cds_start": 2651,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000853337.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.2651G>T",
"hgvs_p": "p.Arg884Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523396.1",
"strand": false,
"transcript": "ENST00000853337.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 745,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6118,
"cdna_start": 3728,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001349784.2",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.1679G>T",
"hgvs_p": "p.Arg560Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336713.1",
"strand": false,
"transcript": "NM_001349784.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1131,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000396272.7",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.572G>T",
"hgvs_p": "p.Arg191Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379569.3",
"strand": false,
"transcript": "ENST00000396272.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "R",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6090,
"cdna_start": 3700,
"cds_end": null,
"cds_length": 4152,
"cds_start": 3593,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_005251869.5",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3593G>T",
"hgvs_p": "p.Arg1198Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251926.1",
"strand": false,
"transcript": "XM_005251869.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": 3511,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3404,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047423136.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.3404G>T",
"hgvs_p": "p.Arg1135Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279092.1",
"strand": false,
"transcript": "XM_047423136.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "R",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5950,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 3513,
"cds_start": 2954,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047423137.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "c.2954G>T",
"hgvs_p": "p.Arg985Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279093.1",
"strand": false,
"transcript": "XM_047423137.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2637,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000377057.5",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "n.253G>T",
"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": "ENST00000377057.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 779,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000474495.1",
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"hgvs_c": "n.618G>T",
"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": "ENST00000474495.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs113363101",
"effect": "missense_variant",
"frequency_reference_population": 6.8448423e-7,
"gene_hgnc_id": 11869,
"gene_symbol": "CEMIP2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84484e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.03,
"pos": 71697989,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.037,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_013390.3"
}
]
}