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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: 4-168915961-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168915961&ref=T&alt=C&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": "PALLD",
"hgnc_id": 17068,
"hgvs_c": "c.2784T>C",
"hgvs_p": "p.Pro928Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001166108.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CBR4",
"hgnc_id": 25891,
"hgvs_c": "n.*259-21196A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000510042.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 138,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "4",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " 1, susceptibility to,PALLD-related disorder,Pancreatic adenocarcinoma,Pancreatic cancer,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "P",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2784,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001166108.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2784T>C",
"hgvs_p": "p.Pro928Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000505667.6",
"protein_coding": true,
"protein_id": "NP_001159580.1",
"strand": true,
"transcript": "NM_001166108.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "P",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2784,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000505667.6",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2784T>C",
"hgvs_p": "p.Pro928Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001166108.2",
"protein_coding": true,
"protein_id": "ENSP00000425556.1",
"strand": true,
"transcript": "ENST00000505667.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "P",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5809,
"cdna_start": 2944,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2733,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000261509.10",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2733T>C",
"hgvs_p": "p.Pro911Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261509.6",
"strand": true,
"transcript": "ENST00000261509.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 672,
"aa_ref": "P",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000507735.6",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1272T>C",
"hgvs_p": "p.Pro424Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424016.1",
"strand": true,
"transcript": "ENST00000507735.6",
"transcript_support_level": 1
},
{
"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": 3829,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000507699.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "n.1050T>C",
"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": "ENST00000507699.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "P",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5819,
"cdna_start": 2998,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2784,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000968439.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2784T>C",
"hgvs_p": "p.Pro928Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638498.1",
"strand": true,
"transcript": "ENST00000968439.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "P",
"aa_start": 928,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": 2978,
"cds_end": null,
"cds_length": 3366,
"cds_start": 2784,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000871521.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2784T>C",
"hgvs_p": "p.Pro928Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541580.1",
"strand": true,
"transcript": "ENST00000871521.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "P",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5807,
"cdna_start": 2958,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2733,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_016081.4",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2733T>C",
"hgvs_p": "p.Pro911Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057165.3",
"strand": true,
"transcript": "NM_016081.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 999,
"aa_ref": "P",
"aa_start": 804,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 3000,
"cds_start": 2412,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000871520.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2412T>C",
"hgvs_p": "p.Pro804Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541579.1",
"strand": true,
"transcript": "ENST00000871520.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 777,
"aa_ref": "P",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4951,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1587,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001166109.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1587T>C",
"hgvs_p": "p.Pro529Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159581.1",
"strand": true,
"transcript": "NM_001166109.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 777,
"aa_ref": "P",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 2109,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1587,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000512127.5",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1587T>C",
"hgvs_p": "p.Pro529Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426947.1",
"strand": true,
"transcript": "ENST00000512127.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 672,
"aa_ref": "P",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 1518,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001166110.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1272T>C",
"hgvs_p": "p.Pro424Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159582.1",
"strand": true,
"transcript": "NM_001166110.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1410,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367568.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.663T>C",
"hgvs_p": "p.Pro221Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354497.1",
"strand": true,
"transcript": "NM_001367568.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 469,
"aa_ref": "P",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 948,
"cds_end": null,
"cds_length": 1410,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000704822.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.663T>C",
"hgvs_p": "p.Pro221Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516055.1",
"strand": true,
"transcript": "ENST00000704822.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1359,
"cds_start": 612,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001367569.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Pro204Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354498.1",
"strand": true,
"transcript": "NM_001367569.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 416,
"aa_ref": "P",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1251,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367570.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.663T>C",
"hgvs_p": "p.Pro221Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354499.1",
"strand": true,
"transcript": "NM_001367570.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 399,
"aa_ref": "P",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1200,
"cds_start": 612,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001367567.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.612T>C",
"hgvs_p": "p.Pro204Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354496.1",
"strand": true,
"transcript": "NM_001367567.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1468,
"aa_ref": "P",
"aa_start": 1220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6823,
"cdna_start": 4020,
"cds_end": null,
"cds_length": 4407,
"cds_start": 3660,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011531768.3",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Pro1220Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530070.1",
"strand": true,
"transcript": "XM_011531768.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1451,
"aa_ref": "P",
"aa_start": 1203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6772,
"cdna_start": 3969,
"cds_end": null,
"cds_length": 4356,
"cds_start": 3609,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011531769.3",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3609T>C",
"hgvs_p": "p.Pro1203Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530071.1",
"strand": true,
"transcript": "XM_011531769.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "P",
"aa_start": 1220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 4020,
"cds_end": null,
"cds_length": 4248,
"cds_start": 3660,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047449861.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3660T>C",
"hgvs_p": "p.Pro1220Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305817.1",
"strand": true,
"transcript": "XM_047449861.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
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