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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: 9-2648286-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2648286&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2648286,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000382100.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634His",
"transcript": "NM_003383.5",
"protein_id": "NP_003374.3",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 873,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": "ENST00000382100.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634His",
"transcript": "ENST00000382100.8",
"protein_id": "ENSP00000371532.2",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 873,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": "NM_003383.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486His",
"transcript": "ENST00000382099.3",
"protein_id": "ENSP00000371531.3",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 725,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634His",
"transcript": "NM_001018056.3",
"protein_id": "NP_001018066.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 845,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 9129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634His",
"transcript": "ENST00000681306.1",
"protein_id": "ENSP00000506072.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 845,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593His",
"transcript": "NM_001322225.2",
"protein_id": "NP_001309154.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 832,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 9090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593His",
"transcript": "ENST00000680746.1",
"protein_id": "ENSP00000505030.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 832,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593His",
"transcript": "NM_001322226.2",
"protein_id": "NP_001309155.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 804,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 9006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593His",
"transcript": "ENST00000681618.1",
"protein_id": "ENSP00000505773.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 804,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489His",
"transcript": "ENST00000680219.1",
"protein_id": "ENSP00000506614.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 604,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1816,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442His",
"transcript": "ENST00000680296.1",
"protein_id": "ENSP00000506448.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 557,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1675,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 1677,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1006G>A",
"hgvs_p": null,
"transcript": "ENST00000679488.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3257,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1137G>A",
"hgvs_p": null,
"transcript": "ENST00000679718.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3021,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1317G>A",
"hgvs_p": null,
"transcript": "ENST00000679750.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4079,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.677G>A",
"hgvs_p": null,
"transcript": "ENST00000679780.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1736,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.2700G>A",
"hgvs_p": null,
"transcript": "ENST00000679851.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.2101G>A",
"hgvs_p": null,
"transcript": "ENST00000680021.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2875,
"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": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1451G>A",
"hgvs_p": null,
"transcript": "ENST00000680043.1",
"protein_id": "ENSP00000505223.1",
"transcript_support_level": null,
"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": 3519,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1534G>A",
"hgvs_p": null,
"transcript": "ENST00000680332.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1306G>A",
"hgvs_p": null,
"transcript": "ENST00000680751.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3532,
"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": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*1693G>A",
"hgvs_p": null,
"transcript": "ENST00000680891.1",
"protein_id": "ENSP00000505167.1",
"transcript_support_level": null,
"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": 4386,
"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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.1286G>A",
"hgvs_p": null,
"transcript": "ENST00000680975.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2421,
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VLDLR",
"gene_hgnc_id": 12698,
"hgvs_c": "n.*1573G>A",
"hgvs_p": null,
"transcript": "ENST00000681644.1",
"protein_id": "ENSP00000505180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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],
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"hom_count_reference_population": 2,
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"computational_score_selected": 0.5544232726097107,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.91,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1453,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.968,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000382100.8",
"gene_symbol": "VLDLR",
"hgnc_id": 12698,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634His"
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],
"clinvar_disease": " and dysequilibrium syndrome 1, intellectual disability,Cerebellar ataxia,Congenital cerebellar hypoplasia,VLDLR-related disorder,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"phenotype_combined": "Congenital cerebellar hypoplasia|not specified|not provided|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|VLDLR-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}