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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: 4-103110950-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=103110950&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CENPE",
"hgnc_id": 1856,
"hgvs_c": "c.7602C>T",
"hgvs_p": "p.Ser2534Ser",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001813.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 2175,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "4",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2701,
"aa_ref": "S",
"aa_start": 2534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": 7626,
"cds_end": null,
"cds_length": 8106,
"cds_start": 7602,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "NM_001813.3",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7602C>T",
"hgvs_p": "p.Ser2534Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265148.9",
"protein_coding": true,
"protein_id": "NP_001804.2",
"strand": false,
"transcript": "NM_001813.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2701,
"aa_ref": "S",
"aa_start": 2534,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": 7626,
"cds_end": null,
"cds_length": 8106,
"cds_start": 7602,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000265148.9",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7602C>T",
"hgvs_p": "p.Ser2534Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001813.3",
"protein_coding": true,
"protein_id": "ENSP00000265148.3",
"strand": false,
"transcript": "ENST00000265148.9",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2580,
"aa_ref": "S",
"aa_start": 2413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8742,
"cdna_start": 7365,
"cds_end": null,
"cds_length": 7743,
"cds_start": 7239,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000380026.8",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7239C>T",
"hgvs_p": "p.Ser2413Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369365.3",
"strand": false,
"transcript": "ENST00000380026.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2702,
"aa_ref": "S",
"aa_start": 2535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8550,
"cdna_start": 7635,
"cds_end": null,
"cds_length": 8109,
"cds_start": 7605,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000933323.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7605C>T",
"hgvs_p": "p.Ser2535Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603382.1",
"strand": false,
"transcript": "ENST00000933323.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2676,
"aa_ref": "S",
"aa_start": 2509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8536,
"cdna_start": 7616,
"cds_end": null,
"cds_length": 8031,
"cds_start": 7527,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000933319.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7527C>T",
"hgvs_p": "p.Ser2509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603378.1",
"strand": false,
"transcript": "ENST00000933319.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2605,
"aa_ref": "S",
"aa_start": 2438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8297,
"cdna_start": 7378,
"cds_end": null,
"cds_length": 7818,
"cds_start": 7314,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000933321.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7314C>T",
"hgvs_p": "p.Ser2438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603380.1",
"strand": false,
"transcript": "ENST00000933321.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2604,
"aa_ref": "S",
"aa_start": 2437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8297,
"cdna_start": 7382,
"cds_end": null,
"cds_length": 7815,
"cds_start": 7311,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000933320.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7311C>T",
"hgvs_p": "p.Ser2437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603379.1",
"strand": false,
"transcript": "ENST00000933320.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2580,
"aa_ref": "S",
"aa_start": 2413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8178,
"cdna_start": 7263,
"cds_end": null,
"cds_length": 7743,
"cds_start": 7239,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001286734.2",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7239C>T",
"hgvs_p": "p.Ser2413Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273663.1",
"strand": false,
"transcript": "NM_001286734.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2579,
"aa_ref": "S",
"aa_start": 2412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8215,
"cdna_start": 7300,
"cds_end": null,
"cds_length": 7740,
"cds_start": 7236,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000933322.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7236C>T",
"hgvs_p": "p.Ser2412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603381.1",
"strand": false,
"transcript": "ENST00000933322.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2526,
"aa_ref": "S",
"aa_start": 2359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8001,
"cdna_start": 7139,
"cds_end": null,
"cds_length": 7581,
"cds_start": 7077,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000933324.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7077C>T",
"hgvs_p": "p.Ser2359Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603383.1",
"strand": false,
"transcript": "ENST00000933324.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2471,
"aa_ref": "S",
"aa_start": 2304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7967,
"cdna_start": 7056,
"cds_end": null,
"cds_length": 7416,
"cds_start": 6912,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000960876.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.6912C>T",
"hgvs_p": "p.Ser2304Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630935.1",
"strand": false,
"transcript": "ENST00000960876.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2676,
"aa_ref": "S",
"aa_start": 2509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8466,
"cdna_start": 7551,
"cds_end": null,
"cds_length": 8031,
"cds_start": 7527,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_011531544.3",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7527C>T",
"hgvs_p": "p.Ser2509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529846.1",
"strand": false,
"transcript": "XM_011531544.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2648,
"aa_ref": "S",
"aa_start": 2481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8382,
"cdna_start": 7467,
"cds_end": null,
"cds_length": 7947,
"cds_start": 7443,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_011531545.3",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7443C>T",
"hgvs_p": "p.Ser2481Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529847.1",
"strand": false,
"transcript": "XM_011531545.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2633,
"aa_ref": "S",
"aa_start": 2466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8337,
"cdna_start": 7422,
"cds_end": null,
"cds_length": 7902,
"cds_start": 7398,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_011531546.4",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7398C>T",
"hgvs_p": "p.Ser2466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529848.1",
"strand": false,
"transcript": "XM_011531546.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2623,
"aa_ref": "S",
"aa_start": 2456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8307,
"cdna_start": 7392,
"cds_end": null,
"cds_length": 7872,
"cds_start": 7368,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047449533.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7368C>T",
"hgvs_p": "p.Ser2456Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305489.1",
"strand": false,
"transcript": "XM_047449533.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2608,
"aa_ref": "S",
"aa_start": 2441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8262,
"cdna_start": 7347,
"cds_end": null,
"cds_length": 7827,
"cds_start": 7323,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047449534.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7323C>T",
"hgvs_p": "p.Ser2441Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305490.1",
"strand": false,
"transcript": "XM_047449534.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2605,
"aa_ref": "S",
"aa_start": 2438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8253,
"cdna_start": 7338,
"cds_end": null,
"cds_length": 7818,
"cds_start": 7314,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_011531547.3",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7314C>T",
"hgvs_p": "p.Ser2438Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529849.1",
"strand": false,
"transcript": "XM_011531547.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 2604,
"aa_ref": "S",
"aa_start": 2437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8250,
"cdna_start": 7335,
"cds_end": null,
"cds_length": 7815,
"cds_start": 7311,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_011531548.3",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7311C>T",
"hgvs_p": "p.Ser2437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529850.1",
"strand": false,
"transcript": "XM_011531548.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 2580,
"aa_ref": "S",
"aa_start": 2413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8178,
"cdna_start": 7263,
"cds_end": null,
"cds_length": 7743,
"cds_start": 7239,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047449535.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7239C>T",
"hgvs_p": "p.Ser2413Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305491.1",
"strand": false,
"transcript": "XM_047449535.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2579,
"aa_ref": "S",
"aa_start": 2412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8175,
"cdna_start": 7260,
"cds_end": null,
"cds_length": 7740,
"cds_start": 7236,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_047449536.1",
"gene_hgnc_id": 1856,
"gene_symbol": "CENPE",
"hgvs_c": "c.7236C>T",
"hgvs_p": "p.Ser2412Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305492.1",
"strand": false,
"transcript": "XM_047449536.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2553,
"aa_ref": "S",
"aa_start": 2386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8097,
"cdna_start": 7182,
"cds_end": null,
"cds_length": 7662,
"cds_start": 7158,
"consequences": [
"synonymous_variant"
],
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}