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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: 20-20263043-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20263043&ref=G&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": "CFAP61",
"hgnc_id": 15872,
"hgvs_c": "c.2416G>A",
"hgvs_p": "p.Val806Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015585.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CFAP61-AS1",
"hgnc_id": 40731,
"hgvs_c": "n.317-3247C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000460400.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0799,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08994340896606445,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "V",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 3714,
"cds_start": 2416,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_015585.4",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.2416G>A",
"hgvs_p": "p.Val806Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245957.10",
"protein_coding": true,
"protein_id": "NP_056400.3",
"strand": true,
"transcript": "NM_015585.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "V",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4098,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 3714,
"cds_start": 2416,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000245957.10",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.2416G>A",
"hgvs_p": "p.Val806Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015585.4",
"protein_coding": true,
"protein_id": "ENSP00000245957.5",
"strand": true,
"transcript": "ENST00000245957.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 200,
"aa_ref": "V",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": 553,
"cds_end": null,
"cds_length": 603,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000377293.5",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Val162Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366508.1",
"strand": true,
"transcript": "ENST00000377293.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 200,
"aa_ref": "V",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 776,
"cdna_start": 487,
"cds_end": null,
"cds_length": 603,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000389656.4",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Val162Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374307.3",
"strand": true,
"transcript": "ENST00000389656.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "V",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 3714,
"cds_start": 2416,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000884935.1",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.2416G>A",
"hgvs_p": "p.Val806Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554994.1",
"strand": true,
"transcript": "ENST00000884935.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "V",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 3654,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000884934.1",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Val786Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554993.1",
"strand": true,
"transcript": "ENST00000884934.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "V",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3986,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 3639,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000884933.1",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.2341G>A",
"hgvs_p": "p.Val781Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554992.1",
"strand": true,
"transcript": "ENST00000884933.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "V",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 2391,
"cds_end": null,
"cds_length": 3639,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000884936.1",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.2341G>A",
"hgvs_p": "p.Val781Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554995.1",
"strand": true,
"transcript": "ENST00000884936.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "V",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": 2449,
"cds_end": null,
"cds_length": 3639,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000884937.1",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.2341G>A",
"hgvs_p": "p.Val781Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554996.1",
"strand": true,
"transcript": "ENST00000884937.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "V",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 2335,
"cds_end": null,
"cds_length": 3561,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000884932.1",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Val755Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554991.1",
"strand": true,
"transcript": "ENST00000884932.1",
"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": 1871,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000377308.6",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "n.484G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000366523.2",
"strand": true,
"transcript": "ENST00000377308.6",
"transcript_support_level": 2
},
{
"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": 1434,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000468719.6",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "n.*502G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501383.1",
"strand": true,
"transcript": "ENST00000468719.6",
"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": 546,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000488640.1",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "n.73G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000488640.1",
"transcript_support_level": 5
},
{
"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": 1434,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000468719.6",
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"hgvs_c": "n.*502G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501383.1",
"strand": true,
"transcript": "ENST00000468719.6",
"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": 568,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000460400.1",
"gene_hgnc_id": 40731,
"gene_symbol": "CFAP61-AS1",
"hgvs_c": "n.317-3247C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000460400.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_183978.1",
"gene_hgnc_id": 40731,
"gene_symbol": "CFAP61-AS1",
"hgvs_c": "n.345-3247C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_183978.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_183979.1",
"gene_hgnc_id": 40731,
"gene_symbol": "CFAP61-AS1",
"hgvs_c": "n.345-3247C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_183979.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1288236210",
"effect": "missense_variant",
"frequency_reference_population": 0.0000012391943,
"gene_hgnc_id": 15872,
"gene_symbol": "CFAP61",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84084e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657272,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.718,
"pos": 20263043,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.025,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015585.4"
}
]
}