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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: 7-48219460-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=48219460&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 48219460,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152701.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "NM_152701.5",
"protein_id": "NP_689914.3",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 5058,
"cds_start": 394,
"cds_end": null,
"cds_length": 15177,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 17188,
"mane_select": "ENST00000435803.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "ENST00000435803.6",
"protein_id": "ENSP00000411096.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 5058,
"cds_start": 394,
"cds_end": null,
"cds_length": 15177,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 17188,
"mane_select": "NM_152701.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515130.3",
"protein_id": "XP_011513432.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 5059,
"cds_start": 394,
"cds_end": null,
"cds_length": 15180,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 17191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515131.3",
"protein_id": "XP_011513433.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 5028,
"cds_start": 394,
"cds_end": null,
"cds_length": 15087,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 17098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515132.3",
"protein_id": "XP_011513434.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 5028,
"cds_start": 394,
"cds_end": null,
"cds_length": 15087,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 17098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515133.3",
"protein_id": "XP_011513435.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 5013,
"cds_start": 394,
"cds_end": null,
"cds_length": 15042,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 17053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_047419918.1",
"protein_id": "XP_047275874.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 4997,
"cds_start": 394,
"cds_end": null,
"cds_length": 14994,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 17005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515134.3",
"protein_id": "XP_011513436.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 4950,
"cds_start": 394,
"cds_end": null,
"cds_length": 14853,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 15906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_047419919.1",
"protein_id": "XP_047275875.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 4849,
"cds_start": 394,
"cds_end": null,
"cds_length": 14550,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 14704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_047419920.1",
"protein_id": "XP_047275876.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 4829,
"cds_start": 394,
"cds_end": null,
"cds_length": 14490,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 16390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_047419921.1",
"protein_id": "XP_047275877.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 4828,
"cds_start": 394,
"cds_end": null,
"cds_length": 14487,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 16387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515137.4",
"protein_id": "XP_011513439.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 4602,
"cds_start": 394,
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"cdna_start": 420,
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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": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_047419922.1",
"protein_id": "XP_047275878.1",
"transcript_support_level": null,
"aa_start": 132,
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"aa_length": 4530,
"cds_start": 394,
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"cdna_start": 420,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 50,
"intron_rank": null,
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"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515138.3",
"protein_id": "XP_011513440.1",
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},
{
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"protein_coding": true,
"strand": true,
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"missense_variant"
],
"exon_rank": 4,
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"exon_count": 51,
"intron_rank": null,
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"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515139.3",
"protein_id": "XP_011513441.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 4456,
"cds_start": 394,
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"cdna_start": 420,
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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": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
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"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_017011767.2",
"protein_id": "XP_016867256.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_017011768.2",
"protein_id": "XP_016867257.1",
"transcript_support_level": null,
"aa_start": 132,
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"mane_select": null,
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},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515141.3",
"protein_id": "XP_011513443.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 4329,
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"cdna_start": 420,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515142.3",
"protein_id": "XP_011513444.1",
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},
{
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"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515143.3",
"protein_id": "XP_011513445.1",
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"aa_end": null,
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},
{
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"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515144.3",
"protein_id": "XP_011513446.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515145.3",
"protein_id": "XP_011513447.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 3781,
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"cds_end": null,
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"cdna_start": 420,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA13",
"gene_hgnc_id": 14638,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "XM_011515146.3",
"protein_id": "XP_011513448.1",
"transcript_support_level": null,
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}
],
"gene_symbol": "ABCA13",
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"computational_score_selected": 0.09828123450279236,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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{
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],
"verdict": "Likely_benign",
"transcript": "NM_152701.5",
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"effects": [
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],
"inheritance_mode": "Unknown",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}