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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: 4-76163353-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76163353&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 76163353,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_005506.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "NM_005506.4",
"protein_id": "NP_005497.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": "ENST00000264896.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005506.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000264896.8",
"protein_id": "ENSP00000264896.2",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 478,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": "NM_005506.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264896.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.Arg464*",
"transcript": "ENST00000640634.1",
"protein_id": "ENSP00000492737.1",
"transcript_support_level": 5,
"aa_start": 464,
"aa_end": null,
"aa_length": 518,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640634.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432*",
"transcript": "ENST00000862445.1",
"protein_id": "ENSP00000532504.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 486,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862445.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1261C>T",
"hgvs_p": "p.Arg421*",
"transcript": "ENST00000639145.1",
"protein_id": "ENSP00000492831.1",
"transcript_support_level": 5,
"aa_start": 421,
"aa_end": null,
"aa_length": 475,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639145.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417*",
"transcript": "ENST00000862444.1",
"protein_id": "ENSP00000532503.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 471,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862444.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000640957.1",
"protein_id": "ENSP00000492004.1",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 470,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640957.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1228C>T",
"hgvs_p": "p.Arg410*",
"transcript": "ENST00000862443.1",
"protein_id": "ENSP00000532502.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 464,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862443.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424*",
"transcript": "ENST00000640640.1",
"protein_id": "ENSP00000492246.1",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 449,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 4608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640640.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1150C>T",
"hgvs_p": "p.Arg384*",
"transcript": "ENST00000638603.1",
"protein_id": "ENSP00000491728.1",
"transcript_support_level": 5,
"aa_start": 384,
"aa_end": null,
"aa_length": 438,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638603.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382*",
"transcript": "ENST00000921155.1",
"protein_id": "ENSP00000591214.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 436,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921155.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Arg361*",
"transcript": "ENST00000862442.1",
"protein_id": "ENSP00000532501.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 415,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862442.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "NM_001204255.2",
"protein_id": "NP_001191184.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 335,
"cds_start": 841,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204255.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.841C>T",
"hgvs_p": "p.Arg281*",
"transcript": "ENST00000452464.6",
"protein_id": "ENSP00000399154.2",
"transcript_support_level": 2,
"aa_start": 281,
"aa_end": null,
"aa_length": 335,
"cds_start": 841,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452464.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Arg266*",
"transcript": "ENST00000638295.1",
"protein_id": "ENSP00000492288.1",
"transcript_support_level": 5,
"aa_start": 266,
"aa_end": null,
"aa_length": 320,
"cds_start": 796,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638295.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Arg120*",
"transcript": "ENST00000639738.1",
"protein_id": "ENSP00000491792.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 174,
"cds_start": 358,
"cds_end": null,
"cds_length": 525,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639738.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28*",
"transcript": "ENST00000640880.1",
"protein_id": "ENSP00000491653.1",
"transcript_support_level": 4,
"aa_start": 28,
"aa_end": null,
"aa_length": 94,
"cds_start": 82,
"cds_end": null,
"cds_length": 285,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640880.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Arg266*",
"transcript": "XM_047416429.1",
"protein_id": "XP_047272385.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 320,
"cds_start": 796,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416429.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Arg266*",
"transcript": "XM_047416430.1",
"protein_id": "XP_047272386.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 320,
"cds_start": 796,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416430.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.646C>T",
"hgvs_p": null,
"transcript": "ENST00000511129.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511129.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.4388C>T",
"hgvs_p": null,
"transcript": "ENST00000638372.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4811,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000638372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCARB2",
"gene_hgnc_id": 1665,
"hgvs_c": "n.*52C>T",
"hgvs_p": null,
"transcript": "ENST00000638663.1",
"protein_id": "ENSP00000491407.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
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],
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"computational_score_selected": 0.28999999165534973,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.316,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_005506.4",
"gene_symbol": "SCARB2",
"hgnc_id": 1665,
"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 14,
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000651366.1",
"gene_symbol": "ENSG00000286074",
"hgnc_id": 58820,
"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "Action myoclonus-renal failure syndrome,Inborn genetic diseases,Progressive myoclonic epilepsy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 O:1",
"phenotype_combined": "Action myoclonus-renal failure syndrome|Progressive myoclonic epilepsy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}