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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: 12-30713848-ATT-TGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=30713848&ref=ATT&alt=TGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CAPRIN2",
"hgnc_id": 21259,
"hgvs_c": "c.2686_2688delAATinsTCA",
"hgvs_p": "p.Asn896Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001002259.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "N",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2440,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385503.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2440_2442delAATinsTCA",
"hgvs_p": "p.Asn814Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695402.1",
"protein_coding": true,
"protein_id": "NP_001372432.1",
"strand": false,
"transcript": "NM_001385503.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "N",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2440,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695402.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2440_2442delAATinsTCA",
"hgvs_p": "p.Asn814Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385503.1",
"protein_coding": true,
"protein_id": "ENSP00000511883.1",
"strand": false,
"transcript": "ENST00000695402.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "N",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 3289,
"cds_end": null,
"cds_length": 3234,
"cds_start": 2536,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000298892.9",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2536_2538delAATinsTCA",
"hgvs_p": "p.Asn846Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298892.5",
"strand": false,
"transcript": "ENST00000298892.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 960,
"aa_ref": "N",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 3233,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417045.5",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2683_2685delAATinsTCA",
"hgvs_p": "p.Asn895Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391479.1",
"strand": false,
"transcript": "ENST00000417045.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 905,
"aa_ref": "N",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4156,
"cdna_start": 3068,
"cds_end": null,
"cds_length": 2718,
"cds_start": 2518,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395805.6",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2518_2520delAATinsTCA",
"hgvs_p": "p.Asn840Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379150.2",
"strand": false,
"transcript": "ENST00000395805.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "N",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000433722.6",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.1921_1923delAATinsTCA",
"hgvs_p": "p.Asn641Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415407.2",
"strand": false,
"transcript": "ENST00000433722.6",
"transcript_support_level": 1
},
{
"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": 4398,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000454014.6",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "n.*1763_*1765delAATinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403876.2",
"strand": false,
"transcript": "ENST00000454014.6",
"transcript_support_level": 1
},
{
"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": 3221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000548676.5",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "n.*1766_*1768delAATinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449139.1",
"strand": false,
"transcript": "ENST00000548676.5",
"transcript_support_level": 1
},
{
"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": 4398,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000454014.6",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "n.*1763_*1765delAATinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403876.2",
"strand": false,
"transcript": "ENST00000454014.6",
"transcript_support_level": 1
},
{
"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": 3221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000548676.5",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "n.*1766_*1768delAATinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449139.1",
"strand": false,
"transcript": "ENST00000548676.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "N",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 3876,
"cds_end": null,
"cds_length": 3384,
"cds_start": 2686,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001002259.3",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2686_2688delAATinsTCA",
"hgvs_p": "p.Asn896Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002259.1",
"strand": false,
"transcript": "NM_001002259.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "N",
"aa_start": 896,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": 3439,
"cds_end": null,
"cds_length": 3384,
"cds_start": 2686,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687797.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2686_2688delAATinsTCA",
"hgvs_p": "p.Asn896Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510623.1",
"strand": false,
"transcript": "ENST00000687797.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "N",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 3873,
"cds_end": null,
"cds_length": 3381,
"cds_start": 2683,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001319843.2",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2683_2685delAATinsTCA",
"hgvs_p": "p.Asn895Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306772.1",
"strand": false,
"transcript": "NM_001319843.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "N",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 3813,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2623,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385498.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2623_2625delAATinsTCA",
"hgvs_p": "p.Asn875Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372427.1",
"strand": false,
"transcript": "NM_001385498.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1092,
"aa_ref": "N",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4816,
"cdna_start": 3771,
"cds_end": null,
"cds_length": 3279,
"cds_start": 2581,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385499.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2581_2583delAATinsTCA",
"hgvs_p": "p.Asn861Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372428.1",
"strand": false,
"transcript": "NM_001385499.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "N",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4813,
"cdna_start": 3768,
"cds_end": null,
"cds_length": 3276,
"cds_start": 2578,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001385500.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2578_2580delAATinsTCA",
"hgvs_p": "p.Asn860Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372429.1",
"strand": false,
"transcript": "NM_001385500.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "N",
"aa_start": 846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4771,
"cdna_start": 3726,
"cds_end": null,
"cds_length": 3234,
"cds_start": 2536,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_023925.5",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2536_2538delAATinsTCA",
"hgvs_p": "p.Asn846Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076414.2",
"strand": false,
"transcript": "NM_023925.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "N",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 3231,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893350.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2533_2535delAATinsTCA",
"hgvs_p": "p.Asn845Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563409.1",
"strand": false,
"transcript": "ENST00000893350.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "N",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3721,
"cdna_start": 2678,
"cds_end": null,
"cds_length": 3231,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954221.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2533_2535delAATinsTCA",
"hgvs_p": "p.Asn845Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624280.1",
"strand": false,
"transcript": "ENST00000954221.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "N",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2724,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695374.1",
"gene_hgnc_id": 21259,
"gene_symbol": "CAPRIN2",
"hgvs_c": "c.2455_2457delAATinsTCA",
"hgvs_p": "p.Asn819Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511847.1",
"strand": false,
"transcript": "ENST00000695374.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "N",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3800,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 3141,
"cds_start": 2443,
"consequences": [
"missense_variant"
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