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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: 1-205073145-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205073145&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CNTN2",
"hgnc_id": 2172,
"hgvs_c": "c.2922T>G",
"hgvs_p": "p.Pro974Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_005076.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 2870,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": " 5, familial adult myoclonic,Epilepsy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7916,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_005076.5",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2922T>G",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331830.7",
"protein_coding": true,
"protein_id": "NP_005067.1",
"strand": true,
"transcript": "NM_005076.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7916,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000331830.7",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2922T>G",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005076.5",
"protein_coding": true,
"protein_id": "ENSP00000330633.4",
"strand": true,
"transcript": "ENST00000331830.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 3207,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000640428.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2922T>G",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491474.1",
"strand": true,
"transcript": "ENST00000640428.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "P",
"aa_start": 991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2973,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000853779.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2973T>G",
"hgvs_p": "p.Pro991Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523838.1",
"strand": true,
"transcript": "ENST00000853779.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7827,
"cdna_start": 3102,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001346083.2",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2922T>G",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333012.1",
"strand": true,
"transcript": "NM_001346083.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4447,
"cdna_start": 3083,
"cds_end": null,
"cds_length": 3123,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000638378.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2922T>G",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492617.1",
"strand": true,
"transcript": "ENST00000638378.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1039,
"aa_ref": "P",
"aa_start": 973,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 3269,
"cds_end": null,
"cds_length": 3120,
"cds_start": 2919,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000853778.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2919T>G",
"hgvs_p": "p.Pro973Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523837.1",
"strand": true,
"transcript": "ENST00000853778.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "P",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7112,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2391,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000636312.2",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2391T>G",
"hgvs_p": "p.Pro797Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489754.2",
"strand": true,
"transcript": "ENST00000636312.2",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 526,
"aa_ref": "P",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000638577.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.1158T>G",
"hgvs_p": "p.Pro386Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492457.1",
"strand": true,
"transcript": "ENST00000638577.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8244,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 3564,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047429102.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2922T>G",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285058.1",
"strand": true,
"transcript": "XM_047429102.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8155,
"cdna_start": 3102,
"cds_end": null,
"cds_length": 3564,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047429104.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2922T>G",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285060.1",
"strand": true,
"transcript": "XM_047429104.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "P",
"aa_start": 969,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8447,
"cdna_start": 3394,
"cds_end": null,
"cds_length": 3549,
"cds_start": 2907,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_017002199.3",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "c.2907T>G",
"hgvs_p": "p.Pro969Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016857688.1",
"strand": true,
"transcript": "XM_017002199.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000481872.6",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.2914T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481872.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000525433.2",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.2276T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000525433.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000638715.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.1195T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000638715.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000639023.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.2613T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000639023.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000639122.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.*568T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491982.1",
"strand": true,
"transcript": "ENST00000639122.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000639302.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.2922T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491671.1",
"strand": true,
"transcript": "ENST00000639302.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000639788.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.1553T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000639788.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000639843.1",
"gene_hgnc_id": 2172,
"gene_symbol": "CNTN2",
"hgvs_c": "n.*1246T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491680.1",
"strand": true,
"transcript": "ENST00000639843.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000639971.1",
"gene_hgnc_id": 2172,
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