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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: 4-168913983-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168913983&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 168913983,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001166108.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2679A>G",
"hgvs_p": "p.Arg893Arg",
"transcript": "NM_001166108.2",
"protein_id": "NP_001159580.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505667.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166108.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2679A>G",
"hgvs_p": "p.Arg893Arg",
"transcript": "ENST00000505667.6",
"protein_id": "ENSP00000425556.1",
"transcript_support_level": 1,
"aa_start": 893,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001166108.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505667.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2628A>G",
"hgvs_p": "p.Arg876Arg",
"transcript": "ENST00000261509.10",
"protein_id": "ENSP00000261509.6",
"transcript_support_level": 1,
"aa_start": 876,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2628,
"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": "ENST00000261509.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1167A>G",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000507735.6",
"protein_id": "ENSP00000424016.1",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 672,
"cds_start": 1167,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507735.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "n.945A>G",
"hgvs_p": null,
"transcript": "ENST00000507699.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000507699.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2679A>G",
"hgvs_p": "p.Arg893Arg",
"transcript": "ENST00000968439.1",
"protein_id": "ENSP00000638498.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968439.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2679A>G",
"hgvs_p": "p.Arg893Arg",
"transcript": "ENST00000871521.1",
"protein_id": "ENSP00000541580.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2679,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871521.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2628A>G",
"hgvs_p": "p.Arg876Arg",
"transcript": "NM_016081.4",
"protein_id": "NP_057165.3",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2628,
"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_016081.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2307A>G",
"hgvs_p": "p.Arg769Arg",
"transcript": "ENST00000871520.1",
"protein_id": "ENSP00000541579.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 999,
"cds_start": 2307,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871520.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Arg494Arg",
"transcript": "NM_001166109.2",
"protein_id": "NP_001159581.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 777,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166109.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Arg494Arg",
"transcript": "ENST00000512127.5",
"protein_id": "ENSP00000426947.1",
"transcript_support_level": 2,
"aa_start": 494,
"aa_end": null,
"aa_length": 777,
"cds_start": 1482,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512127.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1167A>G",
"hgvs_p": "p.Arg389Arg",
"transcript": "NM_001166110.2",
"protein_id": "NP_001159582.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 672,
"cds_start": 1167,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166110.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.558A>G",
"hgvs_p": "p.Arg186Arg",
"transcript": "NM_001367568.1",
"protein_id": "NP_001354497.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 469,
"cds_start": 558,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367568.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.558A>G",
"hgvs_p": "p.Arg186Arg",
"transcript": "ENST00000704822.1",
"protein_id": "ENSP00000516055.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 469,
"cds_start": 558,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704822.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Arg169Arg",
"transcript": "NM_001367569.1",
"protein_id": "NP_001354498.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 452,
"cds_start": 507,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367569.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.558A>G",
"hgvs_p": "p.Arg186Arg",
"transcript": "NM_001367570.1",
"protein_id": "NP_001354499.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 416,
"cds_start": 558,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367570.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.507A>G",
"hgvs_p": "p.Arg169Arg",
"transcript": "NM_001367567.1",
"protein_id": "NP_001354496.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 399,
"cds_start": 507,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367567.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3555A>G",
"hgvs_p": "p.Arg1185Arg",
"transcript": "XM_011531768.3",
"protein_id": "XP_011530070.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1468,
"cds_start": 3555,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531768.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3504A>G",
"hgvs_p": "p.Arg1168Arg",
"transcript": "XM_011531769.3",
"protein_id": "XP_011530071.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3504,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531769.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3555A>G",
"hgvs_p": "p.Arg1185Arg",
"transcript": "XM_047449861.1",
"protein_id": "XP_047305817.1",
"transcript_support_level": null,
"aa_start": 1185,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3555,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449861.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3504A>G",
"hgvs_p": "p.Arg1168Arg",
"transcript": "XM_047449862.1",
"protein_id": "XP_047305818.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3504,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449862.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3282A>G",
"hgvs_p": "p.Arg1094Arg",
"transcript": "XM_011531771.3",
"protein_id": "XP_011530073.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3282,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.523,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001166108.2",
"gene_symbol": "PALLD",
"hgnc_id": 17068,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2679A>G",
"hgvs_p": "p.Arg893Arg"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000510042.5",
"gene_symbol": "CBR4",
"hgnc_id": 25891,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*259-19218T>C",
"hgvs_p": null
}
],
"clinvar_disease": " 1, susceptibility to,Pancreatic adenocarcinoma,Pancreatic cancer,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "Pancreatic cancer, susceptibility to, 1|Pancreatic adenocarcinoma|not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}