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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: 12-30710321-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=30710321&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 30710321,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001002259.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2719G>T",
"hgvs_p": "p.Val907Phe",
"transcript": "NM_001385503.1",
"protein_id": "NP_001372432.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2719,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695402.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385503.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2719G>T",
"hgvs_p": "p.Val907Phe",
"transcript": "ENST00000695402.1",
"protein_id": "ENSP00000511883.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2719,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385503.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695402.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2815G>T",
"hgvs_p": "p.Val939Phe",
"transcript": "ENST00000298892.9",
"protein_id": "ENSP00000298892.5",
"transcript_support_level": 1,
"aa_start": 939,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298892.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.*123G>T",
"hgvs_p": null,
"transcript": "ENST00000395805.6",
"protein_id": "ENSP00000379150.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": null,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395805.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.*123G>T",
"hgvs_p": null,
"transcript": "ENST00000433722.6",
"protein_id": "ENSP00000415407.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": null,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433722.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "n.*2042G>T",
"hgvs_p": null,
"transcript": "ENST00000454014.6",
"protein_id": "ENSP00000403876.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000454014.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "n.*2045G>T",
"hgvs_p": null,
"transcript": "ENST00000548676.5",
"protein_id": "ENSP00000449139.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000548676.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "n.*2042G>T",
"hgvs_p": null,
"transcript": "ENST00000454014.6",
"protein_id": "ENSP00000403876.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000454014.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "n.*2045G>T",
"hgvs_p": null,
"transcript": "ENST00000548676.5",
"protein_id": "ENSP00000449139.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000548676.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2965G>T",
"hgvs_p": "p.Val989Phe",
"transcript": "NM_001002259.3",
"protein_id": "NP_001002259.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002259.3"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2965G>T",
"hgvs_p": "p.Val989Phe",
"transcript": "ENST00000687797.1",
"protein_id": "ENSP00000510623.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687797.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2962G>T",
"hgvs_p": "p.Val988Phe",
"transcript": "NM_001319843.2",
"protein_id": "NP_001306772.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319843.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2902G>T",
"hgvs_p": "p.Val968Phe",
"transcript": "NM_001385498.1",
"protein_id": "NP_001372427.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385498.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2860G>T",
"hgvs_p": "p.Val954Phe",
"transcript": "NM_001385499.1",
"protein_id": "NP_001372428.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2860,
"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": "NM_001385499.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2857G>T",
"hgvs_p": "p.Val953Phe",
"transcript": "NM_001385500.1",
"protein_id": "NP_001372429.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2857,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385500.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2815G>T",
"hgvs_p": "p.Val939Phe",
"transcript": "NM_023925.5",
"protein_id": "NP_076414.2",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1077,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023925.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2812G>T",
"hgvs_p": "p.Val938Phe",
"transcript": "ENST00000893350.1",
"protein_id": "ENSP00000563409.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893350.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2812G>T",
"hgvs_p": "p.Val938Phe",
"transcript": "ENST00000954221.1",
"protein_id": "ENSP00000624280.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954221.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2734G>T",
"hgvs_p": "p.Val912Phe",
"transcript": "ENST00000695374.1",
"protein_id": "ENSP00000511847.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2734,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695374.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Val908Phe",
"transcript": "NM_001319845.2",
"protein_id": "NP_001306774.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319845.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Val908Phe",
"transcript": "NM_001319846.2",
"protein_id": "NP_001306775.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319846.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPRIN2",
"gene_hgnc_id": 21259,
"hgvs_c": "c.2722G>T",
"hgvs_p": "p.Val908Phe",
"transcript": "NM_001385501.1",
"protein_id": "NP_001372430.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1046,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3141,
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{
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{
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{
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],
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"biotype": "protein_coding",
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],
"gene_symbol": "CAPRIN2",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14231932163238525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.184,
"revel_prediction": "Benign",
"alphamissense_score": 0.4219,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.35,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001002259.3",
"gene_symbol": "CAPRIN2",
"hgnc_id": 21259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2965G>T",
"hgvs_p": "p.Val989Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}