← Back to variant description
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: 21-44333188-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44333188&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 44333188,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000339818.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "NM_004928.3",
"protein_id": "NP_004919.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 256,
"cds_start": 218,
"cds_end": null,
"cds_length": 771,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": "ENST00000339818.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "ENST00000339818.9",
"protein_id": "ENSP00000344566.4",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 256,
"cds_start": 218,
"cds_end": null,
"cds_length": 771,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": "NM_004928.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "ENST00000397956.7",
"protein_id": "ENSP00000381047.3",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 375,
"cds_start": 218,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "ENST00000325223.7",
"protein_id": "ENSP00000317302.7",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 255,
"cds_start": 218,
"cds_end": null,
"cds_length": 768,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "n.334G>C",
"hgvs_p": null,
"transcript": "ENST00000496321.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "NM_001271441.2",
"protein_id": "NP_001258370.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 375,
"cds_start": 218,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "NM_001271440.2",
"protein_id": "NP_001258369.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 255,
"cds_start": 218,
"cds_end": null,
"cds_length": 768,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.95G>C",
"hgvs_p": "p.Arg32Pro",
"transcript": "NM_001271442.1",
"protein_id": "NP_001258371.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 214,
"cds_start": 95,
"cds_end": null,
"cds_length": 645,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.293G>C",
"hgvs_p": "p.Arg98Pro",
"transcript": "XM_047440980.1",
"protein_id": "XP_047296936.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 401,
"cds_start": 293,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.293G>C",
"hgvs_p": "p.Arg98Pro",
"transcript": "XM_047440981.1",
"protein_id": "XP_047296937.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 400,
"cds_start": 293,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro",
"transcript": "XM_047440982.1",
"protein_id": "XP_047296938.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 376,
"cds_start": 218,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 2581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.293G>C",
"hgvs_p": "p.Arg98Pro",
"transcript": "XM_006724051.4",
"protein_id": "XP_006724114.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 281,
"cds_start": 293,
"cds_end": null,
"cds_length": 846,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.293G>C",
"hgvs_p": "p.Arg98Pro",
"transcript": "XM_047440983.1",
"protein_id": "XP_047296939.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 280,
"cds_start": 293,
"cds_end": null,
"cds_length": 843,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "n.2389G>C",
"hgvs_p": null,
"transcript": "ENST00000462742.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "n.277G>C",
"hgvs_p": null,
"transcript": "ENST00000478674.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.-107G>C",
"hgvs_p": null,
"transcript": "XM_047440984.1",
"protein_id": "XP_047296940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.-107G>C",
"hgvs_p": null,
"transcript": "XM_047440985.1",
"protein_id": "XP_047296941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.-107G>C",
"hgvs_p": null,
"transcript": "XM_047440986.1",
"protein_id": "XP_047296942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"hgvs_c": "c.-107G>C",
"hgvs_p": null,
"transcript": "XM_047440987.1",
"protein_id": "XP_047296943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": -4,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000184441",
"gene_hgnc_id": null,
"hgvs_c": "n.1705-14C>G",
"hgvs_p": null,
"transcript": "ENST00000448927.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CFAP410",
"gene_hgnc_id": 1260,
"dbsnp": "rs140451304",
"frequency_reference_population": 0.0005022826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 810,
"gnomad_exomes_af": 0.000516985,
"gnomad_genomes_af": 0.000361253,
"gnomad_exomes_ac": 755,
"gnomad_genomes_ac": 55,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13023537397384644,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.031,
"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": "PP5_Very_Strong,BP4,BS1_Supporting",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 2,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BP4",
"BS1_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000339818.9",
"gene_symbol": "CFAP410",
"hgnc_id": 1260,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Arg73Pro"
},
{
"score": 7,
"benign_score": 1,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BP4"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000448927.1",
"gene_symbol": "ENSG00000184441",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1705-14C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Axial spondylometaphyseal dysplasia,CFAP410-related disorder,Cone dystrophy,Retinal dystrophy,Retinal dystrophy with or without macular staphyloma,Retinitis pigmentosa,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 LP:4",
"phenotype_combined": "Axial spondylometaphyseal dysplasia|Cone dystrophy|Retinitis pigmentosa|Retinal dystrophy|CFAP410-related disorder|not provided|Retinal dystrophy with or without macular staphyloma|Retinal dystrophy with or without macular staphyloma;Axial spondylometaphyseal dysplasia",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}