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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: 12-40939387-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=40939387&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 40939387,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000551295.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "NM_001843.4",
"protein_id": "NP_001834.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1281,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": "ENST00000551295.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "ENST00000551295.7",
"protein_id": "ENSP00000447006.1",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1281,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": "NM_001843.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "ENST00000347616.5",
"protein_id": "ENSP00000325660.3",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1281,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1248T>C",
"hgvs_p": "p.Ala416Ala",
"transcript": "ENST00000348761.2",
"protein_id": "ENSP00000261160.3",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1248,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "ENST00000547849.6",
"protein_id": "ENSP00000448653.1",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 627,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1248T>C",
"hgvs_p": "p.Ala416Ala",
"transcript": "NM_175038.2",
"protein_id": "NP_778203.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1248,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 5477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "NM_001256063.2",
"protein_id": "NP_001242992.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 627,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "NM_001256064.2",
"protein_id": "NP_001242993.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 627,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "ENST00000547702.5",
"protein_id": "ENSP00000448004.1",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 627,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "XM_005268651.3",
"protein_id": "XP_005268708.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1281,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "XM_006719241.3",
"protein_id": "XP_006719304.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1281,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 8784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "XM_011537926.4",
"protein_id": "XP_011536228.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1281,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 5770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "XM_011537927.3",
"protein_id": "XP_011536229.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1281,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 4650,
"cdna_end": null,
"cdna_length": 8806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "XM_017018826.3",
"protein_id": "XP_016874315.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 627,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "XM_017018827.3",
"protein_id": "XP_016874316.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 627,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 4650,
"cdna_end": null,
"cdna_length": 6457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala",
"transcript": "XM_024448843.2",
"protein_id": "XP_024304611.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 627,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 3421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CNTN1",
"gene_hgnc_id": 2171,
"dbsnp": "rs536609686",
"frequency_reference_population": 0.000009913738,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000820992,
"gnomad_genomes_af": 0.0000262681,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.104,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000551295.7",
"gene_symbol": "CNTN1",
"hgnc_id": 2171,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Ala427Ala"
}
],
"clinvar_disease": "Compton-North congenital myopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Compton-North congenital myopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}