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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: 4-168756335-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168756335&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 168756335,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000505667.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1964+44412G>A",
"hgvs_p": null,
"transcript": "NM_001166108.2",
"protein_id": "NP_001159580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "ENST00000505667.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1964+44412G>A",
"hgvs_p": null,
"transcript": "ENST00000505667.6",
"protein_id": "ENSP00000425556.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "NM_001166108.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1964+44412G>A",
"hgvs_p": null,
"transcript": "ENST00000261509.10",
"protein_id": "ENSP00000261509.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1106,
"cds_start": -4,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9P16",
"gene_hgnc_id": 36851,
"hgvs_c": "n.520G>A",
"hgvs_p": null,
"transcript": "ENST00000491923.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL9P16",
"gene_hgnc_id": 36851,
"hgvs_c": "n.168756335G>A",
"hgvs_p": null,
"transcript": null,
"protein_id": null,
"transcript_support_level": null,
"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": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1964+44412G>A",
"hgvs_p": null,
"transcript": "NM_016081.4",
"protein_id": "NP_057165.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1106,
"cds_start": -4,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.818+44412G>A",
"hgvs_p": null,
"transcript": "NM_001166109.2",
"protein_id": "NP_001159581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": -4,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.818+44412G>A",
"hgvs_p": null,
"transcript": "ENST00000512127.5",
"protein_id": "ENSP00000426947.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": -4,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.341+44412G>A",
"hgvs_p": null,
"transcript": "ENST00000649826.1",
"protein_id": "ENSP00000497440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.-158+44061G>A",
"hgvs_p": null,
"transcript": "ENST00000510998.5",
"protein_id": "ENSP00000422135.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": -4,
"cds_end": null,
"cds_length": 272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
"hgvs_p": null,
"transcript": "XM_011531768.3",
"protein_id": "XP_011530070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1468,
"cds_start": -4,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
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"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
"hgvs_p": null,
"transcript": "XM_011531769.3",
"protein_id": "XP_011530071.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
"hgvs_p": null,
"transcript": "XM_047449861.1",
"protein_id": "XP_047305817.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1415,
"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
"hgvs_p": null,
"transcript": "XM_047449862.1",
"protein_id": "XP_047305818.1",
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},
{
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"intron_variant"
],
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"intron_rank": 11,
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"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
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"transcript": "XM_011531771.3",
"protein_id": "XP_011530073.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
"hgvs_p": null,
"transcript": "XM_011531772.3",
"protein_id": "XP_011530074.1",
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},
{
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],
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"intron_rank": 11,
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"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
"hgvs_p": null,
"transcript": "XM_011531773.2",
"protein_id": "XP_011530075.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
"hgvs_p": null,
"transcript": "XM_011531774.2",
"protein_id": "XP_011530076.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2168+44412G>A",
"hgvs_p": null,
"transcript": "XM_047449863.1",
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "PALLD",
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"hgvs_c": "c.818+44412G>A",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "PALLD",
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"hgvs_c": "c.818+44412G>A",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.818+44412G>A",
"hgvs_p": null,
"transcript": "XM_047449864.1",
"protein_id": "XP_047305820.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.818+44412G>A",
"hgvs_p": null,
"transcript": "XM_047449865.1",
"protein_id": "XP_047305821.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1001,
"cds_start": -4,
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"cds_length": 3006,
"cdna_start": null,
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.617,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000505667.6",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000491923.1",
"gene_symbol": "RPL9P16",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.520G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}