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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: 9-39086767-CC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=39086767&ref=CC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CNTNAP3",
"hgnc_id": 13834,
"hgvs_c": "c.3302_3303delGGinsCA",
"hgvs_p": "p.Gly1101Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_033655.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "G",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13150,
"cdna_start": 3406,
"cds_end": null,
"cds_length": 3867,
"cds_start": 3302,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_033655.5",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3302_3303delGGinsCA",
"hgvs_p": "p.Gly1101Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297668.11",
"protein_coding": true,
"protein_id": "NP_387504.2",
"strand": false,
"transcript": "NM_033655.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1288,
"aa_ref": "G",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13150,
"cdna_start": 3406,
"cds_end": null,
"cds_length": 3867,
"cds_start": 3302,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000297668.11",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3302_3303delGGinsCA",
"hgvs_p": "p.Gly1101Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033655.5",
"protein_coding": true,
"protein_id": "ENSP00000297668.6",
"strand": false,
"transcript": "ENST00000297668.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "G",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4986,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3059,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377656.6",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3059_3060delGGinsCA",
"hgvs_p": "p.Gly1020Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366884.2",
"strand": false,
"transcript": "ENST00000377656.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "G",
"aa_start": 1141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": 3516,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3422,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865312.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3422_3423delGGinsCA",
"hgvs_p": "p.Gly1141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535371.1",
"strand": false,
"transcript": "ENST00000865312.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1298,
"aa_ref": "G",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7628,
"cdna_start": 3601,
"cds_end": null,
"cds_length": 3897,
"cds_start": 3332,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941984.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3332_3333delGGinsCA",
"hgvs_p": "p.Gly1111Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612043.1",
"strand": false,
"transcript": "ENST00000941984.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1287,
"aa_ref": "G",
"aa_start": 1100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5534,
"cdna_start": 3847,
"cds_end": null,
"cds_length": 3864,
"cds_start": 3299,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865309.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3299_3300delGGinsCA",
"hgvs_p": "p.Gly1100Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535368.1",
"strand": false,
"transcript": "ENST00000865309.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "G",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5094,
"cdna_start": 3413,
"cds_end": null,
"cds_length": 3765,
"cds_start": 3200,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924962.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3200_3201delGGinsCA",
"hgvs_p": "p.Gly1067Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595021.1",
"strand": false,
"transcript": "ENST00000924962.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1253,
"aa_ref": "G",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7677,
"cdna_start": 3422,
"cds_end": null,
"cds_length": 3762,
"cds_start": 3197,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924961.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3197_3198delGGinsCA",
"hgvs_p": "p.Gly1066Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595020.1",
"strand": false,
"transcript": "ENST00000924961.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1241,
"aa_ref": "G",
"aa_start": 1054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": 3550,
"cds_end": null,
"cds_length": 3726,
"cds_start": 3161,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941986.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3161_3162delGGinsCA",
"hgvs_p": "p.Gly1054Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612045.1",
"strand": false,
"transcript": "ENST00000941986.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "G",
"aa_start": 1028,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7708,
"cdna_start": 3450,
"cds_end": null,
"cds_length": 3648,
"cds_start": 3083,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941983.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3083_3084delGGinsCA",
"hgvs_p": "p.Gly1028Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612042.1",
"strand": false,
"transcript": "ENST00000941983.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "G",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12907,
"cdna_start": 3163,
"cds_end": null,
"cds_length": 3624,
"cds_start": 3059,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001393379.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3059_3060delGGinsCA",
"hgvs_p": "p.Gly1020Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380308.1",
"strand": false,
"transcript": "NM_001393379.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1195,
"aa_ref": "G",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 3417,
"cds_end": null,
"cds_length": 3588,
"cds_start": 3023,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865308.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3023_3024delGGinsCA",
"hgvs_p": "p.Gly1008Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535367.1",
"strand": false,
"transcript": "ENST00000865308.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1194,
"aa_ref": "G",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5113,
"cdna_start": 3429,
"cds_end": null,
"cds_length": 3585,
"cds_start": 3020,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865310.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3020_3021delGGinsCA",
"hgvs_p": "p.Gly1007Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535369.1",
"strand": false,
"transcript": "ENST00000865310.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1155,
"aa_ref": "G",
"aa_start": 968,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7558,
"cdna_start": 3299,
"cds_end": null,
"cds_length": 3468,
"cds_start": 2903,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865307.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.2903_2904delGGinsCA",
"hgvs_p": "p.Gly968Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535366.1",
"strand": false,
"transcript": "ENST00000865307.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "G",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 3294,
"cds_end": null,
"cds_length": 3465,
"cds_start": 2900,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000865311.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.2900_2901delGGinsCA",
"hgvs_p": "p.Gly967Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535370.1",
"strand": false,
"transcript": "ENST00000865311.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "G",
"aa_start": 905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4882,
"cdna_start": 3197,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2714,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941985.1",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.2714_2715delGGinsCA",
"hgvs_p": "p.Gly905Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612044.1",
"strand": false,
"transcript": "ENST00000941985.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "G",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4885,
"cdna_start": 3095,
"cds_end": null,
"cds_length": 3120,
"cds_start": 3038,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358144.6",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "c.3038_3039delGGinsCA",
"hgvs_p": "p.Gly1013Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350863.2",
"strand": false,
"transcript": "ENST00000358144.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 765,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000493965.5",
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"hgvs_c": "n.133_134delGGinsCA",
"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": "ENST00000493965.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 13834,
"gene_symbol": "CNTNAP3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.831,
"pos": 39086767,
"ref": "CC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_033655.5"
}
]
}