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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: 3-86065615-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=86065615&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 86065615,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000383699.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.981T>C",
"hgvs_p": "p.Ala327Ala",
"transcript": "NM_001167675.2",
"protein_id": "NP_001161147.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 404,
"cds_start": 981,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 9480,
"mane_select": "ENST00000383699.8",
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.981T>C",
"hgvs_p": "p.Ala327Ala",
"transcript": "ENST00000383699.8",
"protein_id": "ENSP00000373200.3",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 404,
"cds_start": 981,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 9480,
"mane_select": "NM_001167675.2",
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.1080T>C",
"hgvs_p": "p.Ala360Ala",
"transcript": "ENST00000405615.2",
"protein_id": "ENSP00000384193.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 437,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1314,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.1074T>C",
"hgvs_p": "p.Ala358Ala",
"transcript": "ENST00000407528.6",
"protein_id": "ENSP00000384575.2",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 435,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 1422,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.1101T>C",
"hgvs_p": "p.Ala367Ala",
"transcript": "NM_001375960.1",
"protein_id": "NP_001362889.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 444,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 9600,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.1080T>C",
"hgvs_p": "p.Ala360Ala",
"transcript": "NM_153184.4",
"protein_id": "NP_694854.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 437,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 9198,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.1074T>C",
"hgvs_p": "p.Ala358Ala",
"transcript": "NM_001167674.2",
"protein_id": "NP_001161146.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 435,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 9573,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.1074T>C",
"hgvs_p": "p.Ala358Ala",
"transcript": "NM_001381964.1",
"protein_id": "NP_001368893.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 435,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1596,
"cdna_end": null,
"cdna_length": 9476,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.954T>C",
"hgvs_p": "p.Ala318Ala",
"transcript": "NM_001381963.1",
"protein_id": "NP_001368892.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 395,
"cds_start": 954,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 9453,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.933T>C",
"hgvs_p": "p.Ala311Ala",
"transcript": "NM_001375961.1",
"protein_id": "NP_001362890.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 388,
"cds_start": 933,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 9579,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.843T>C",
"hgvs_p": "p.Ala281Ala",
"transcript": "NM_001375964.1",
"protein_id": "NP_001362893.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 358,
"cds_start": 843,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 9342,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.831T>C",
"hgvs_p": "p.Ala277Ala",
"transcript": "NM_001375967.1",
"protein_id": "NP_001362896.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 354,
"cds_start": 831,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 9330,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "NM_001256502.2",
"protein_id": "NP_001243431.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 327,
"cds_start": 750,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 9570,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.750T>C",
"hgvs_p": "p.Ala250Ala",
"transcript": "NM_001256503.2",
"protein_id": "NP_001243432.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 327,
"cds_start": 750,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 9420,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.690T>C",
"hgvs_p": "p.Ala230Ala",
"transcript": "NM_001375968.1",
"protein_id": "NP_001362897.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 307,
"cds_start": 690,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 9189,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.630T>C",
"hgvs_p": "p.Ala210Ala",
"transcript": "NM_001256504.2",
"protein_id": "NP_001243433.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 287,
"cds_start": 630,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 9477,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.630T>C",
"hgvs_p": "p.Ala210Ala",
"transcript": "NM_001256505.2",
"protein_id": "NP_001243434.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 287,
"cds_start": 630,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 9450,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.1116T>C",
"hgvs_p": "p.Ala372Ala",
"transcript": "XM_017006062.3",
"protein_id": "XP_016861551.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 449,
"cds_start": 1116,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 9518,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.960T>C",
"hgvs_p": "p.Ala320Ala",
"transcript": "XM_017006063.3",
"protein_id": "XP_016861552.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 397,
"cds_start": 960,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 9078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"dbsnp": "rs139890320",
"frequency_reference_population": 0.0044088396,
"hom_count_reference_population": 24,
"allele_count_reference_population": 7111,
"gnomad_exomes_af": 0.00452575,
"gnomad_genomes_af": 0.00328814,
"gnomad_exomes_ac": 6610,
"gnomad_genomes_ac": 501,
"gnomad_exomes_homalt": 22,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"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": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.398,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000383699.8",
"gene_symbol": "CADM2",
"hgnc_id": 29849,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.981T>C",
"hgvs_p": "p.Ala327Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}