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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: 17-4169261-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4169261&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANKFY1",
"hgnc_id": 20763,
"hgvs_c": "c.3440G>C",
"hgvs_p": "p.Cys1147Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001257999.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CYB5D2",
"hgnc_id": 28471,
"hgvs_c": "c.242+14401C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000573984.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.3742,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.77012038230896,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "C",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7506,
"cdna_start": 3352,
"cds_end": null,
"cds_length": 3510,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001330063.2",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3314G>C",
"hgvs_p": "p.Cys1105Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341657.9",
"protein_coding": true,
"protein_id": "NP_001316992.1",
"strand": false,
"transcript": "NM_001330063.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "C",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7506,
"cdna_start": 3352,
"cds_end": null,
"cds_length": 3510,
"cds_start": 3314,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000341657.9",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3314G>C",
"hgvs_p": "p.Cys1105Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330063.2",
"protein_coding": true,
"protein_id": "ENSP00000343362.4",
"strand": false,
"transcript": "ENST00000341657.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "C",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6458,
"cdna_start": 3557,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3440,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000570535.5",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3440G>C",
"hgvs_p": "p.Cys1147Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459943.1",
"strand": false,
"transcript": "ENST00000570535.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "C",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 3332,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3317,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000574367.5",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3317G>C",
"hgvs_p": "p.Cys1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459775.1",
"strand": false,
"transcript": "ENST00000574367.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "C",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7711,
"cdna_start": 3557,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3440,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001257999.3",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3440G>C",
"hgvs_p": "p.Cys1147Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244928.1",
"strand": false,
"transcript": "NM_001257999.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "C",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7509,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3317,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_016376.5",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3317G>C",
"hgvs_p": "p.Cys1106Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057460.3",
"strand": false,
"transcript": "NM_016376.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1150,
"aa_ref": "C",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7428,
"cdna_start": 3274,
"cds_end": null,
"cds_length": 3453,
"cds_start": 3257,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000918777.1",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3257G>C",
"hgvs_p": "p.Cys1086Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588836.1",
"strand": false,
"transcript": "ENST00000918777.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "C",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7931,
"cdna_start": 3777,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3629,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047436221.1",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3629G>C",
"hgvs_p": "p.Cys1210Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292177.1",
"strand": false,
"transcript": "XM_047436221.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "C",
"aa_start": 1209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7928,
"cdna_start": 3774,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3626,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_017024733.2",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3626G>C",
"hgvs_p": "p.Cys1209Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016880222.1",
"strand": false,
"transcript": "XM_017024733.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "C",
"aa_start": 1148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7714,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 3639,
"cds_start": 3443,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011523926.2",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3443G>C",
"hgvs_p": "p.Cys1148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522228.1",
"strand": false,
"transcript": "XM_011523926.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1157,
"aa_ref": "C",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7668,
"cdna_start": 3514,
"cds_end": null,
"cds_length": 3474,
"cds_start": 3278,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047436223.1",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3278G>C",
"hgvs_p": "p.Cys1093Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292179.1",
"strand": false,
"transcript": "XM_047436223.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "C",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7549,
"cdna_start": 3395,
"cds_end": null,
"cds_length": 3336,
"cds_start": 3140,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047436224.1",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.3140G>C",
"hgvs_p": "p.Cys1047Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292180.1",
"strand": false,
"transcript": "XM_047436224.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 708,
"aa_ref": "C",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6186,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047436225.1",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "c.1931G>C",
"hgvs_p": "p.Cys644Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292181.1",
"strand": false,
"transcript": "XM_047436225.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 106,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 495,
"cdna_start": null,
"cds_end": null,
"cds_length": 321,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000573984.1",
"gene_hgnc_id": 28471,
"gene_symbol": "CYB5D2",
"hgvs_c": "c.242+14401C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461090.1",
"strand": true,
"transcript": "ENST00000573984.1",
"transcript_support_level": 4
},
{
"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": 3352,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000572412.5",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "n.*2988G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460619.1",
"strand": false,
"transcript": "ENST00000572412.5",
"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": 665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000575298.1",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "n.173G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467522.1",
"strand": false,
"transcript": "ENST00000575298.1",
"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": 6162,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000648043.1",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "n.3314G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497187.1",
"strand": false,
"transcript": "ENST00000648043.1",
"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": 7390,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NR_047571.3",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "n.3236G>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": "NR_047571.3",
"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": 3352,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000572412.5",
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"hgvs_c": "n.*2988G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460619.1",
"strand": false,
"transcript": "ENST00000572412.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs531938826",
"effect": "missense_variant",
"frequency_reference_population": 0.000005717087,
"gene_hgnc_id": 20763,
"gene_symbol": "ANKFY1",
"gnomad_exomes_ac": 8,
"gnomad_exomes_af": 0.00000571709,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"pos": 4169261,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.394,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001257999.3"
}
]
}