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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: 3-85961548-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=85961548&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 85961548,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001375960.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.871A>T",
"hgvs_p": "p.Asn291Tyr",
"transcript": "NM_001167675.2",
"protein_id": "NP_001161147.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 404,
"cds_start": 871,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 9480,
"mane_select": "ENST00000383699.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167675.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.871A>T",
"hgvs_p": "p.Asn291Tyr",
"transcript": "ENST00000383699.8",
"protein_id": "ENSP00000373200.3",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 404,
"cds_start": 871,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 9480,
"mane_select": "NM_001167675.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383699.8"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Asn284Tyr",
"transcript": "ENST00000405615.2",
"protein_id": "ENSP00000384193.2",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 437,
"cds_start": 850,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405615.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.844A>T",
"hgvs_p": "p.Asn282Tyr",
"transcript": "ENST00000407528.6",
"protein_id": "ENSP00000384575.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 435,
"cds_start": 844,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407528.6"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.871A>T",
"hgvs_p": "p.Asn291Tyr",
"transcript": "NM_001375960.1",
"protein_id": "NP_001362889.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 444,
"cds_start": 871,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 9600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375960.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Asn284Tyr",
"transcript": "NM_153184.4",
"protein_id": "NP_694854.2",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 437,
"cds_start": 850,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 9198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153184.4"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.844A>T",
"hgvs_p": "p.Asn282Tyr",
"transcript": "NM_001167674.2",
"protein_id": "NP_001161146.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 435,
"cds_start": 844,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 9573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167674.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.844A>T",
"hgvs_p": "p.Asn282Tyr",
"transcript": "NM_001381964.1",
"protein_id": "NP_001368893.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 435,
"cds_start": 844,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 9476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381964.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.844A>T",
"hgvs_p": "p.Asn282Tyr",
"transcript": "NM_001381963.1",
"protein_id": "NP_001368892.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 395,
"cds_start": 844,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 9453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001381963.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.823A>T",
"hgvs_p": "p.Asn275Tyr",
"transcript": "NM_001375961.1",
"protein_id": "NP_001362890.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 388,
"cds_start": 823,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 9579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375961.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.733A>T",
"hgvs_p": "p.Asn245Tyr",
"transcript": "NM_001375964.1",
"protein_id": "NP_001362893.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 358,
"cds_start": 733,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 9342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375964.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.721A>T",
"hgvs_p": "p.Asn241Tyr",
"transcript": "NM_001375967.1",
"protein_id": "NP_001362896.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 354,
"cds_start": 721,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 9330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375967.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.520A>T",
"hgvs_p": "p.Asn174Tyr",
"transcript": "NM_001256502.2",
"protein_id": "NP_001243431.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 327,
"cds_start": 520,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 9570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256502.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.520A>T",
"hgvs_p": "p.Asn174Tyr",
"transcript": "NM_001256503.2",
"protein_id": "NP_001243432.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 327,
"cds_start": 520,
"cds_end": null,
"cds_length": 984,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 9420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256503.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.580A>T",
"hgvs_p": "p.Asn194Tyr",
"transcript": "NM_001375968.1",
"protein_id": "NP_001362897.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 307,
"cds_start": 580,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 9189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375968.1"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.520A>T",
"hgvs_p": "p.Asn174Tyr",
"transcript": "NM_001256504.2",
"protein_id": "NP_001243433.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 287,
"cds_start": 520,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 9477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256504.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.520A>T",
"hgvs_p": "p.Asn174Tyr",
"transcript": "NM_001256505.2",
"protein_id": "NP_001243434.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 287,
"cds_start": 520,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 9450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256505.2"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Asn296Tyr",
"transcript": "XM_017006062.3",
"protein_id": "XP_016861551.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 449,
"cds_start": 886,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 9518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006062.3"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Asn284Tyr",
"transcript": "XM_017006063.3",
"protein_id": "XP_016861552.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 397,
"cds_start": 850,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 9078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006063.3"
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"hgvs_c": "c.844A>T",
"hgvs_p": "p.Asn282Tyr",
"transcript": "XM_047447872.1",
"protein_id": "XP_047303828.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 380,
"cds_start": 844,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447872.1"
}
],
"gene_symbol": "CADM2",
"gene_hgnc_id": 29849,
"dbsnp": "rs766912522",
"frequency_reference_population": 6.8546206e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85462e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41117599606513977,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
"alphamissense_score": 0.1769,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.829,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001375960.1",
"gene_symbol": "CADM2",
"hgnc_id": 29849,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.871A>T",
"hgvs_p": "p.Asn291Tyr"
}
],
"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
}