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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: 9-39078770-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=39078770&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 39078770,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_033655.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3593C>T",
"hgvs_p": "p.Ala1198Val",
"transcript": "NM_033655.5",
"protein_id": "NP_387504.2",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3593,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297668.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033655.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3593C>T",
"hgvs_p": "p.Ala1198Val",
"transcript": "ENST00000297668.11",
"protein_id": "ENSP00000297668.6",
"transcript_support_level": 1,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3593,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033655.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297668.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3350C>T",
"hgvs_p": "p.Ala1117Val",
"transcript": "ENST00000377656.6",
"protein_id": "ENSP00000366884.2",
"transcript_support_level": 1,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377656.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3713C>T",
"hgvs_p": "p.Ala1238Val",
"transcript": "ENST00000865312.1",
"protein_id": "ENSP00000535371.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3713,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865312.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3623C>T",
"hgvs_p": "p.Ala1208Val",
"transcript": "ENST00000941984.1",
"protein_id": "ENSP00000612043.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3623,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941984.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3590C>T",
"hgvs_p": "p.Ala1197Val",
"transcript": "ENST00000865309.1",
"protein_id": "ENSP00000535368.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3590,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865309.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3491C>T",
"hgvs_p": "p.Ala1164Val",
"transcript": "ENST00000924962.1",
"protein_id": "ENSP00000595021.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3491,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924962.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3488C>T",
"hgvs_p": "p.Ala1163Val",
"transcript": "ENST00000924961.1",
"protein_id": "ENSP00000595020.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3488,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924961.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3452C>T",
"hgvs_p": "p.Ala1151Val",
"transcript": "ENST00000941986.1",
"protein_id": "ENSP00000612045.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3452,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941986.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3374C>T",
"hgvs_p": "p.Ala1125Val",
"transcript": "ENST00000941983.1",
"protein_id": "ENSP00000612042.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941983.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3350C>T",
"hgvs_p": "p.Ala1117Val",
"transcript": "NM_001393379.1",
"protein_id": "NP_001380308.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3350,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393379.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3314C>T",
"hgvs_p": "p.Ala1105Val",
"transcript": "ENST00000865308.1",
"protein_id": "ENSP00000535367.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1195,
"cds_start": 3314,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865308.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3311C>T",
"hgvs_p": "p.Ala1104Val",
"transcript": "ENST00000865310.1",
"protein_id": "ENSP00000535369.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865310.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3194C>T",
"hgvs_p": "p.Ala1065Val",
"transcript": "ENST00000865307.1",
"protein_id": "ENSP00000535366.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1155,
"cds_start": 3194,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865307.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3191C>T",
"hgvs_p": "p.Ala1064Val",
"transcript": "ENST00000865311.1",
"protein_id": "ENSP00000535370.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865311.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "c.3005C>T",
"hgvs_p": "p.Ala1002Val",
"transcript": "ENST00000941985.1",
"protein_id": "ENSP00000612044.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1092,
"cds_start": 3005,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "n.274-314C>T",
"hgvs_p": null,
"transcript": "ENST00000493965.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000493965.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"hgvs_c": "n.*48C>T",
"hgvs_p": null,
"transcript": "ENST00000477002.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000477002.1"
}
],
"gene_symbol": "CNTNAP3",
"gene_hgnc_id": 13834,
"dbsnp": null,
"frequency_reference_population": 0.0000029295315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000292953,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06234601140022278,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.0947,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.537,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_033655.5",
"gene_symbol": "CNTNAP3",
"hgnc_id": 13834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3593C>T",
"hgvs_p": "p.Ala1198Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}