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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: 22-50461834-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50461834&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50461834,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000380817.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"transcript": "NM_002972.4",
"protein_id": "NP_002963.2",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1893,
"cds_start": 2605,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": "ENST00000380817.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"transcript": "ENST00000380817.8",
"protein_id": "ENSP00000370196.2",
"transcript_support_level": 1,
"aa_start": 869,
"aa_end": null,
"aa_length": 1893,
"cds_start": 2605,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": "NM_002972.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"transcript": "ENST00000693052.1",
"protein_id": "ENSP00000509558.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1899,
"cds_start": 2605,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2608G>A",
"hgvs_p": "p.Val870Met",
"transcript": "NM_001410794.1",
"protein_id": "NP_001397723.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1894,
"cds_start": 2608,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 2803,
"cdna_end": null,
"cdna_length": 8022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2608G>A",
"hgvs_p": "p.Val870Met",
"transcript": "ENST00000684986.1",
"protein_id": "ENSP00000509117.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1894,
"cds_start": 2608,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 6200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"transcript": "ENST00000688066.1",
"protein_id": "ENSP00000510782.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1893,
"cds_start": 2605,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 6110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Val868Met",
"transcript": "ENST00000693440.1",
"protein_id": "ENSP00000509462.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1892,
"cds_start": 2602,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 6187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2599G>A",
"hgvs_p": "p.Val867Met",
"transcript": "ENST00000690990.1",
"protein_id": "ENSP00000510461.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1891,
"cds_start": 2599,
"cds_end": null,
"cds_length": 5676,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"transcript": "ENST00000691792.1",
"protein_id": "ENSP00000509911.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1888,
"cds_start": 2605,
"cds_end": null,
"cds_length": 5667,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"transcript": "ENST00000689981.1",
"protein_id": "ENSP00000509035.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1880,
"cds_start": 2605,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2608G>A",
"hgvs_p": "p.Val870Met",
"transcript": "NM_001365819.1",
"protein_id": "NP_001352748.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1868,
"cds_start": 2608,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 2803,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2608G>A",
"hgvs_p": "p.Val870Met",
"transcript": "ENST00000689129.1",
"protein_id": "ENSP00000510414.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1868,
"cds_start": 2608,
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"cds_length": 5607,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 8669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Val869Met",
"transcript": "NM_001410795.1",
"protein_id": "NP_001397724.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1867,
"cds_start": 2605,
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"cdna_start": 2800,
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"cdna_length": 7941,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
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"hgvs_p": "p.Val869Met",
"transcript": "ENST00000348911.11",
"protein_id": "ENSP00000252027.8",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Val868Met",
"transcript": "ENST00000691233.1",
"protein_id": "ENSP00000509215.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1866,
"cds_start": 2602,
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"cdna_start": 2795,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2596G>A",
"hgvs_p": "p.Val866Met",
"transcript": "ENST00000685809.1",
"protein_id": "ENSP00000508863.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Val862Met",
"transcript": "ENST00000687016.1",
"protein_id": "ENSP00000509074.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 1859,
"cds_start": 2584,
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"cds_length": 5580,
"cdna_start": 2760,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.475G>A",
"hgvs_p": "p.Val159Met",
"transcript": "ENST00000685386.1",
"protein_id": "ENSP00000510338.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 509,
"cds_start": 475,
"cds_end": null,
"cds_length": 1531,
"cdna_start": 475,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.848G>A",
"hgvs_p": null,
"transcript": "ENST00000685390.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*2027G>A",
"hgvs_p": null,
"transcript": "ENST00000686222.1",
"protein_id": "ENSP00000508737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.2605G>A",
"hgvs_p": null,
"transcript": "ENST00000686427.1",
"protein_id": "ENSP00000510379.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 5994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.2593G>A",
"hgvs_p": null,
"transcript": "ENST00000686801.1",
"protein_id": "ENSP00000509915.1",
"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": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*419G>A",
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.786,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4B3,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4B3|not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}