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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: 11-102047511-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=102047511&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 102047511,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001441265.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_032930.3",
"protein_id": "NP_116319.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 267,
"cds_start": 41,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434758.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032930.3"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "ENST00000434758.7",
"protein_id": "ENSP00000414390.2",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 267,
"cds_start": 41,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032930.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434758.7"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "ENST00000534360.1",
"protein_id": "ENSP00000435482.1",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 99,
"cds_start": 41,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "n.44T>G",
"hgvs_p": null,
"transcript": "ENST00000530659.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000530659.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_001441265.1",
"protein_id": "NP_001428194.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 269,
"cds_start": 41,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441265.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_001363505.2",
"protein_id": "NP_001350434.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 243,
"cds_start": 41,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363505.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "ENST00000879551.1",
"protein_id": "ENSP00000549610.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 243,
"cds_start": 41,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879551.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_001441266.1",
"protein_id": "NP_001428195.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 241,
"cds_start": 41,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441266.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "ENST00000526781.5",
"protein_id": "ENSP00000433074.1",
"transcript_support_level": 3,
"aa_start": 14,
"aa_end": null,
"aa_length": 241,
"cds_start": 41,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526781.5"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_001441267.1",
"protein_id": "NP_001428196.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 218,
"cds_start": 41,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441267.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_001441268.1",
"protein_id": "NP_001428197.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 203,
"cds_start": 41,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441268.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_001441269.1",
"protein_id": "NP_001428198.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 187,
"cds_start": 41,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441269.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "ENST00000920394.1",
"protein_id": "ENSP00000590453.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 186,
"cds_start": 41,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920394.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_001441270.1",
"protein_id": "NP_001428199.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 162,
"cds_start": 41,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441270.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "ENST00000953524.1",
"protein_id": "ENSP00000623583.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 106,
"cds_start": 41,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953524.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys",
"transcript": "NM_001195005.2",
"protein_id": "NP_001181934.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 99,
"cds_start": 41,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195005.2"
}
],
"gene_symbol": "CFAP300",
"gene_hgnc_id": 28188,
"dbsnp": "rs1941895921",
"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": 0.953965425491333,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.579,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.104,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001441265.1",
"gene_symbol": "CFAP300",
"hgnc_id": 28188,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.41T>G",
"hgvs_p": "p.Phe14Cys"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}