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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: 20-20075497-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20075497&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 20075497,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015585.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "NM_015585.4",
"protein_id": "NP_056400.3",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1237,
"cds_start": 448,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245957.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015585.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000245957.10",
"protein_id": "ENSP00000245957.5",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 1237,
"cds_start": 448,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015585.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245957.10"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000451767.6",
"protein_id": "ENSP00000414537.2",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 470,
"cds_start": 448,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451767.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.310C>G",
"hgvs_p": "p.Leu104Val",
"transcript": "ENST00000340348.10",
"protein_id": "ENSP00000345553.6",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 369,
"cds_start": 310,
"cds_end": null,
"cds_length": 1112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340348.10"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000884935.1",
"protein_id": "ENSP00000554994.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1237,
"cds_start": 448,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884935.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000884934.1",
"protein_id": "ENSP00000554993.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1217,
"cds_start": 448,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884934.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000884933.1",
"protein_id": "ENSP00000554992.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1212,
"cds_start": 448,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884933.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000884936.1",
"protein_id": "ENSP00000554995.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1212,
"cds_start": 448,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884936.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000884937.1",
"protein_id": "ENSP00000554996.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1212,
"cds_start": 448,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884937.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000884932.1",
"protein_id": "ENSP00000554991.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 1186,
"cds_start": 448,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884932.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000674269.1",
"protein_id": "ENSP00000501498.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 704,
"cds_start": 448,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674269.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "NM_001167816.1",
"protein_id": "NP_001161288.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 470,
"cds_start": 448,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167816.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000377306.5",
"protein_id": "ENSP00000366521.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 470,
"cds_start": 448,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377306.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val",
"transcript": "ENST00000377303.6",
"protein_id": "ENSP00000366518.2",
"transcript_support_level": 4,
"aa_start": 150,
"aa_end": null,
"aa_length": 188,
"cds_start": 448,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377303.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.136C>G",
"hgvs_p": "p.Leu46Val",
"transcript": "ENST00000472660.1",
"protein_id": "ENSP00000420498.1",
"transcript_support_level": 4,
"aa_start": 46,
"aa_end": null,
"aa_length": 159,
"cds_start": 136,
"cds_end": null,
"cds_length": 482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.525C>G",
"hgvs_p": null,
"transcript": "ENST00000674296.1",
"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": "retained_intron",
"feature": "ENST00000674296.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309008",
"gene_hgnc_id": null,
"hgvs_c": "n.935G>C",
"hgvs_p": null,
"transcript": "ENST00000837758.1",
"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": "ENST00000837758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000309008",
"gene_hgnc_id": null,
"hgvs_c": "n.528+464G>C",
"hgvs_p": null,
"transcript": "ENST00000837757.1",
"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": "ENST00000837757.1"
}
],
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"dbsnp": "rs1568841657",
"frequency_reference_population": 6.841143e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84114e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6277554035186768,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.24,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.988,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015585.4",
"gene_symbol": "CFAP61",
"hgnc_id": 15872,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.448C>G",
"hgvs_p": "p.Leu150Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000837758.1",
"gene_symbol": "ENSG00000309008",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.935G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}