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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: 4-168898595-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168898595&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PALLD",
"hgnc_id": 17068,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Asp785Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001166108.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CBR4",
"hgnc_id": 25891,
"hgvs_c": "n.*259-3830C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000510042.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1474,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3350476622581482,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "D",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 2578,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001166108.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Asp785Asn",
"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": "N",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "D",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 2578,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000505667.6",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Asp785Asn",
"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": "N",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "D",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5809,
"cdna_start": 2513,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2302,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000261509.10",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2302G>A",
"hgvs_p": "p.Asp768Asn",
"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": "N",
"aa_end": null,
"aa_length": 672,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4392,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 2019,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000507735.6",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"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": 1,
"exon_rank_end": null,
"feature": "ENST00000507699.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "n.619G>A",
"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": "N",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "D",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5819,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 3372,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968439.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Asp785Asn",
"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": "N",
"aa_end": null,
"aa_length": 1121,
"aa_ref": "D",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": 2547,
"cds_end": null,
"cds_length": 3366,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000871521.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Asp785Asn",
"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": "N",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "D",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5807,
"cdna_start": 2527,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2302,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_016081.4",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.2302G>A",
"hgvs_p": "p.Asp768Asn",
"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": "N",
"aa_end": null,
"aa_length": 777,
"aa_ref": "D",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4951,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1156,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001166109.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Asp386Asn",
"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": "N",
"aa_end": null,
"aa_length": 777,
"aa_ref": "D",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2958,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1156,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000512127.5",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Asp386Asn",
"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": "N",
"aa_end": null,
"aa_length": 672,
"aa_ref": "D",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 2019,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001166110.2",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"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": "N",
"aa_end": null,
"aa_length": 469,
"aa_ref": "D",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1410,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367568.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Asp78Asn",
"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": "N",
"aa_end": null,
"aa_length": 469,
"aa_ref": "D",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1410,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000704822.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Asp78Asn",
"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": "N",
"aa_end": null,
"aa_length": 452,
"aa_ref": "D",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1359,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367569.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Asp61Asn",
"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": "N",
"aa_end": null,
"aa_length": 416,
"aa_ref": "D",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1251,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367570.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Asp78Asn",
"intron_rank": null,
"intron_rank_end": null,
"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": "N",
"aa_end": null,
"aa_length": 399,
"aa_ref": "D",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1200,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367567.1",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Asp61Asn",
"intron_rank": null,
"intron_rank_end": null,
"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": "N",
"aa_end": null,
"aa_length": 163,
"aa_ref": "D",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 817,
"cdna_start": 505,
"cds_end": null,
"cds_length": 493,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393726.7",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Asp61Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377327.3",
"strand": true,
"transcript": "ENST00000393726.7",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 89,
"aa_ref": "D",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 545,
"cdna_start": 454,
"cds_end": null,
"cds_length": 272,
"cds_start": 181,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000510998.5",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Asp61Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422135.1",
"strand": true,
"transcript": "ENST00000510998.5",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1468,
"aa_ref": "D",
"aa_start": 1077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6823,
"cdna_start": 3589,
"cds_end": null,
"cds_length": 4407,
"cds_start": 3229,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011531768.3",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3229G>A",
"hgvs_p": "p.Asp1077Asn",
"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": "N",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "D",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6772,
"cdna_start": 3538,
"cds_end": null,
"cds_length": 4356,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011531769.3",
"gene_hgnc_id": 17068,
"gene_symbol": "PALLD",
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Asp1060Asn",
"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": "N",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "D",
"aa_start": 1077,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 3589,
"cds_end": null,
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