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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: 11-85981138-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85981138&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 85981138,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000393346.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1770T>G",
"hgvs_p": "p.Ala590Ala",
"transcript": "NM_007166.4",
"protein_id": "NP_009097.2",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 652,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": "ENST00000393346.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1770T>G",
"hgvs_p": "p.Ala590Ala",
"transcript": "ENST00000393346.8",
"protein_id": "ENSP00000377015.3",
"transcript_support_level": 1,
"aa_start": 590,
"aa_end": null,
"aa_length": 652,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4134,
"mane_select": "NM_007166.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1749T>G",
"hgvs_p": "p.Ala583Ala",
"transcript": "ENST00000526033.5",
"protein_id": "ENSP00000433846.1",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 645,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1620T>G",
"hgvs_p": "p.Ala540Ala",
"transcript": "ENST00000532317.5",
"protein_id": "ENSP00000436958.1",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 610,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1749T>G",
"hgvs_p": "p.Ala583Ala",
"transcript": "NM_001206946.2",
"protein_id": "NP_001193875.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 645,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1770T>G",
"hgvs_p": "p.Ala590Ala",
"transcript": "NM_001411034.1",
"protein_id": "NP_001397963.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 632,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1770T>G",
"hgvs_p": "p.Ala590Ala",
"transcript": "ENST00000356360.9",
"protein_id": "ENSP00000348718.5",
"transcript_support_level": 5,
"aa_start": 590,
"aa_end": null,
"aa_length": 632,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1620T>G",
"hgvs_p": "p.Ala540Ala",
"transcript": "NM_001008660.3",
"protein_id": "NP_001008660.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 610,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1467T>G",
"hgvs_p": "p.Ala489Ala",
"transcript": "NM_001206947.2",
"protein_id": "NP_001193876.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 551,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1467T>G",
"hgvs_p": "p.Ala489Ala",
"transcript": "ENST00000528398.5",
"protein_id": "ENSP00000434884.1",
"transcript_support_level": 2,
"aa_start": 489,
"aa_end": null,
"aa_length": 551,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.711T>G",
"hgvs_p": "p.Ala237Ala",
"transcript": "ENST00000529760.5",
"protein_id": "ENSP00000435807.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 307,
"cds_start": 711,
"cds_end": null,
"cds_length": 924,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.861T>G",
"hgvs_p": "p.Ala287Ala",
"transcript": "ENST00000530542.1",
"protein_id": "ENSP00000435737.1",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 300,
"cds_start": 861,
"cds_end": null,
"cds_length": 904,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Ala193Ala",
"transcript": "ENST00000526961.5",
"protein_id": "ENSP00000432976.1",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 263,
"cds_start": 579,
"cds_end": null,
"cds_length": 792,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.708T>G",
"hgvs_p": "p.Ala236Ala",
"transcript": "ENST00000529016.5",
"protein_id": "ENSP00000432509.1",
"transcript_support_level": 3,
"aa_start": 236,
"aa_end": null,
"aa_length": 243,
"cds_start": 708,
"cds_end": null,
"cds_length": 732,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.354T>G",
"hgvs_p": "p.Ala118Ala",
"transcript": "ENST00000530692.5",
"protein_id": "ENSP00000436852.1",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 214,
"cds_start": 354,
"cds_end": null,
"cds_length": 645,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.273T>G",
"hgvs_p": "p.Ala91Ala",
"transcript": "ENST00000532603.5",
"protein_id": "ENSP00000435311.1",
"transcript_support_level": 4,
"aa_start": 91,
"aa_end": null,
"aa_length": 133,
"cds_start": 273,
"cds_end": null,
"cds_length": 402,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1770T>G",
"hgvs_p": "p.Ala590Ala",
"transcript": "XM_005274322.4",
"protein_id": "XP_005274379.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 686,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1770T>G",
"hgvs_p": "p.Ala590Ala",
"transcript": "XM_005274326.4",
"protein_id": "XP_005274383.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 660,
"cds_start": 1770,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1755T>G",
"hgvs_p": "p.Ala585Ala",
"transcript": "XM_005274328.4",
"protein_id": "XP_005274385.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 655,
"cds_start": 1755,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1749T>G",
"hgvs_p": "p.Ala583Ala",
"transcript": "XM_024448700.2",
"protein_id": "XP_024304468.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 653,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1734T>G",
"hgvs_p": "p.Ala578Ala",
"transcript": "XM_017018381.3",
"protein_id": "XP_016873870.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 648,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1755T>G",
"hgvs_p": "p.Ala585Ala",
"transcript": "XM_005274329.5",
"protein_id": "XP_005274386.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 647,
"cds_start": 1755,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1734T>G",
"hgvs_p": "p.Ala578Ala",
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"inheritance_mode": "",
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"hgvs_p": "p.Ala590Ala"
}
],
"clinvar_disease": "PICALM-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided|PICALM-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}