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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: 21-44333087-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=44333087&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CFAP410",
"hgnc_id": 1260,
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Tyr107His",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001271441.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000184441",
"hgnc_id": null,
"hgvs_c": "n.1705-115A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000448927.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM5,PP3_Strong,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.9872,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "21",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Axial spondylometaphyseal dysplasia,Retinal dystrophy with or without macular staphyloma",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9468222260475159,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 256,
"aa_ref": "Y",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 515,
"cds_end": null,
"cds_length": 771,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004928.3",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Tyr107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000339818.9",
"protein_coding": true,
"protein_id": "NP_004919.1",
"strand": false,
"transcript": "NM_004928.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 256,
"aa_ref": "Y",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 515,
"cds_end": null,
"cds_length": 771,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000339818.9",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Tyr107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004928.3",
"protein_coding": true,
"protein_id": "ENSP00000344566.4",
"strand": false,
"transcript": "ENST00000339818.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Y",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1128,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000397956.7",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Tyr107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381047.3",
"strand": false,
"transcript": "ENST00000397956.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 255,
"aa_ref": "Y",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1283,
"cdna_start": 527,
"cds_end": null,
"cds_length": 768,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000325223.7",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Tyr107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317302.7",
"strand": false,
"transcript": "ENST00000325223.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000496321.5",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "n.435T>C",
"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": "ENST00000496321.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Y",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1128,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001271441.2",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Tyr107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258370.1",
"strand": false,
"transcript": "NM_001271441.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 255,
"aa_ref": "Y",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 515,
"cds_end": null,
"cds_length": 768,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001271440.2",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Tyr107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258369.1",
"strand": false,
"transcript": "NM_001271440.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 214,
"aa_ref": "Y",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 435,
"cds_end": null,
"cds_length": 645,
"cds_start": 196,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001271442.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Tyr66His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258371.1",
"strand": false,
"transcript": "NM_001271442.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 401,
"aa_ref": "Y",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1206,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047440980.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.394T>C",
"hgvs_p": "p.Tyr132His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296936.1",
"strand": false,
"transcript": "XM_047440980.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 400,
"aa_ref": "Y",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 664,
"cds_end": null,
"cds_length": 1203,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047440981.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.394T>C",
"hgvs_p": "p.Tyr132His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296937.1",
"strand": false,
"transcript": "XM_047440981.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 376,
"aa_ref": "Y",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1131,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440982.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.319T>C",
"hgvs_p": "p.Tyr107His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296938.1",
"strand": false,
"transcript": "XM_047440982.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 281,
"aa_ref": "Y",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 658,
"cds_end": null,
"cds_length": 846,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_006724051.4",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.394T>C",
"hgvs_p": "p.Tyr132His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724114.1",
"strand": false,
"transcript": "XM_006724051.4",
"transcript_support_level": null
},
{
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"aa_length": 280,
"aa_ref": "Y",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 658,
"cds_end": null,
"cds_length": 843,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047440983.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.394T>C",
"hgvs_p": "p.Tyr132His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296939.1",
"strand": false,
"transcript": "XM_047440983.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047440984.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.-6T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296940.1",
"strand": false,
"transcript": "XM_047440984.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047440985.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.-6T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296941.1",
"strand": false,
"transcript": "XM_047440985.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 268,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047440986.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.-6T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296942.1",
"strand": false,
"transcript": "XM_047440986.1",
"transcript_support_level": null
},
{
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"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4822,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047440987.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "c.-6T>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296943.1",
"strand": false,
"transcript": "XM_047440987.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000462742.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "n.2490T>C",
"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": "ENST00000462742.1",
"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": 485,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000478674.1",
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"hgvs_c": "n.378T>C",
"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": "ENST00000478674.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4354,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448927.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000184441",
"hgvs_c": "n.1705-115A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000448927.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs763623409",
"effect": "missense_variant",
"frequency_reference_population": 0.0000068602726,
"gene_hgnc_id": 1260,
"gene_symbol": "CFAP410",
"gnomad_exomes_ac": 10,
"gnomad_exomes_af": 0.00000686027,
"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": "Pathogenic",
"phenotype_combined": "Axial spondylometaphyseal dysplasia|Retinal dystrophy with or without macular staphyloma",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.51,
"pos": 44333087,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.743,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001271441.2"
}
]
}