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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: 4-7983304-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=7983304&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 7983304,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001130083.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595His",
"transcript": "NM_001130083.2",
"protein_id": "NP_001123555.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 645,
"cds_start": 1784,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447017.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130083.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595His",
"transcript": "ENST00000447017.7",
"protein_id": "ENSP00000393511.2",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 645,
"cds_start": 1784,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130083.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447017.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561His",
"transcript": "ENST00000341937.9",
"protein_id": "ENSP00000342813.5",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 611,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341937.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Arg522His",
"transcript": "ENST00000361581.9",
"protein_id": "ENSP00000355003.5",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 572,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361581.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1412G>A",
"hgvs_p": "p.Arg471His",
"transcript": "ENST00000407564.7",
"protein_id": "ENSP00000384658.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 521,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407564.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"transcript": "ENST00000710854.1",
"protein_id": "ENSP00000518527.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 685,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710854.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600His",
"transcript": "ENST00000545242.6",
"protein_id": "ENSP00000441255.3",
"transcript_support_level": 5,
"aa_start": 600,
"aa_end": null,
"aa_length": 650,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545242.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1730G>A",
"hgvs_p": "p.Arg577His",
"transcript": "ENST00000676532.1",
"protein_id": "ENSP00000504601.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 627,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676532.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1682G>A",
"hgvs_p": "p.Arg561His",
"transcript": "NM_001130084.2",
"protein_id": "NP_001123556.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 611,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130084.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1565G>A",
"hgvs_p": "p.Arg522His",
"transcript": "NM_001130085.2",
"protein_id": "NP_001123557.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 572,
"cds_start": 1565,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130085.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509His",
"transcript": "NM_001130086.2",
"protein_id": "NP_001123558.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 559,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130086.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509His",
"transcript": "ENST00000505872.5",
"protein_id": "ENSP00000421283.1",
"transcript_support_level": 5,
"aa_start": 509,
"aa_end": null,
"aa_length": 559,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505872.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481His",
"transcript": "NM_001130087.2",
"protein_id": "NP_001123559.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 531,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130087.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481His",
"transcript": "ENST00000361737.9",
"protein_id": "ENSP00000354887.5",
"transcript_support_level": 2,
"aa_start": 481,
"aa_end": null,
"aa_length": 531,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361737.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.1412G>A",
"hgvs_p": "p.Arg471His",
"transcript": "NM_032432.5",
"protein_id": "NP_115808.3",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 521,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032432.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296His",
"transcript": "NM_001286688.2",
"protein_id": "NP_001273617.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 346,
"cds_start": 887,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286688.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296His",
"transcript": "ENST00000514025.5",
"protein_id": "ENSP00000423661.1",
"transcript_support_level": 2,
"aa_start": 296,
"aa_end": null,
"aa_length": 346,
"cds_start": 887,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514025.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2075G>A",
"hgvs_p": "p.Arg692His",
"transcript": "XM_047416297.1",
"protein_id": "XP_047272253.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 742,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416297.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2072G>A",
"hgvs_p": "p.Arg691His",
"transcript": "XM_047416298.1",
"protein_id": "XP_047272254.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 741,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416298.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2060G>A",
"hgvs_p": "p.Arg687His",
"transcript": "XM_047416299.1",
"protein_id": "XP_047272255.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 737,
"cds_start": 2060,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416299.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2042G>A",
"hgvs_p": "p.Arg681His",
"transcript": "XM_047416300.1",
"protein_id": "XP_047272256.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 731,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416300.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM2",
"gene_hgnc_id": 19195,
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"transcript": "XM_047416301.1",
"protein_id": "XP_047272257.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 726,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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{
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"phenotype_combined": "High myopia|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}