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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: 4-168890938-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168890938&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 168890938,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000505667.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1981G>C",
"hgvs_p": "p.Ala661Pro",
"transcript": "NM_001166108.2",
"protein_id": "NP_001159580.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1981,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "ENST00000505667.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1981G>C",
"hgvs_p": "p.Ala661Pro",
"transcript": "ENST00000505667.6",
"protein_id": "ENSP00000425556.1",
"transcript_support_level": 1,
"aa_start": 661,
"aa_end": null,
"aa_length": 1123,
"cds_start": 1981,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "NM_001166108.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1981G>C",
"hgvs_p": "p.Ala661Pro",
"transcript": "ENST00000261509.10",
"protein_id": "ENSP00000261509.6",
"transcript_support_level": 1,
"aa_start": 661,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1981,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"transcript": "ENST00000507735.6",
"protein_id": "ENSP00000424016.1",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 672,
"cds_start": 520,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1981G>C",
"hgvs_p": "p.Ala661Pro",
"transcript": "NM_016081.4",
"protein_id": "NP_057165.3",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 1106,
"cds_start": 1981,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Ala279Pro",
"transcript": "NM_001166109.2",
"protein_id": "NP_001159581.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 777,
"cds_start": 835,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Ala279Pro",
"transcript": "ENST00000512127.5",
"protein_id": "ENSP00000426947.1",
"transcript_support_level": 2,
"aa_start": 279,
"aa_end": null,
"aa_length": 777,
"cds_start": 835,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.520G>C",
"hgvs_p": "p.Ala174Pro",
"transcript": "NM_001166110.2",
"protein_id": "NP_001159582.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 672,
"cds_start": 520,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1030G>C",
"hgvs_p": "p.Ala344Pro",
"transcript": "ENST00000649826.1",
"protein_id": "ENSP00000497440.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 382,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2857G>C",
"hgvs_p": "p.Ala953Pro",
"transcript": "XM_011531768.3",
"protein_id": "XP_011530070.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1468,
"cds_start": 2857,
"cds_end": null,
"cds_length": 4407,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2857G>C",
"hgvs_p": "p.Ala953Pro",
"transcript": "XM_011531769.3",
"protein_id": "XP_011530071.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1451,
"cds_start": 2857,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 6772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2857G>C",
"hgvs_p": "p.Ala953Pro",
"transcript": "XM_047449861.1",
"protein_id": "XP_047305817.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1415,
"cds_start": 2857,
"cds_end": null,
"cds_length": 4248,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2857G>C",
"hgvs_p": "p.Ala953Pro",
"transcript": "XM_047449862.1",
"protein_id": "XP_047305818.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1398,
"cds_start": 2857,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2857G>C",
"hgvs_p": "p.Ala953Pro",
"transcript": "XM_011531771.3",
"protein_id": "XP_011530073.1",
"transcript_support_level": null,
"aa_start": 953,
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"cds_start": 2857,
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"cdna_start": 3217,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2857G>C",
"hgvs_p": "p.Ala953Pro",
"transcript": "XM_011531772.3",
"protein_id": "XP_011530074.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1344,
"cds_start": 2857,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2185G>C",
"hgvs_p": "p.Ala729Pro",
"transcript": "XM_011531773.2",
"protein_id": "XP_011530075.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1244,
"cds_start": 2185,
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"cdna_start": 2545,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2185G>C",
"hgvs_p": "p.Ala729Pro",
"transcript": "XM_011531774.2",
"protein_id": "XP_011530076.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2185,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2185G>C",
"hgvs_p": "p.Ala729Pro",
"transcript": "XM_047449863.1",
"protein_id": "XP_047305819.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2185,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Ala503Pro",
"transcript": "XM_011531775.2",
"protein_id": "XP_011530077.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1507,
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"cdna_start": 1857,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Ala503Pro",
"transcript": "XM_024453939.2",
"protein_id": "XP_024309707.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1507,
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"cdna_start": 2181,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Ala503Pro",
"transcript": "XM_047449864.1",
"protein_id": "XP_047305820.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1507,
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"cds_length": 3057,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Ala503Pro",
"transcript": "XM_047449865.1",
"protein_id": "XP_047305821.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 1001,
"cds_start": 1507,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
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{
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"phenotype_combined": "Pancreatic adenocarcinoma",
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}
],
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}