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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: 4-76163364-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76163364&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 76163364,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_005506.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1258delG",
"hgvs_p": "p.Glu420fs",
"transcript": "NM_005506.4",
"protein_id": "NP_005497.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 478,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": "ENST00000264896.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005506.4"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1258delG",
"hgvs_p": "p.Glu420fs",
"transcript": "ENST00000264896.8",
"protein_id": "ENSP00000264896.2",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 478,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 4694,
"mane_select": "NM_005506.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264896.8"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.1378delG",
"hgvs_p": "p.Glu460fs",
"transcript": "ENST00000640634.1",
"protein_id": "ENSP00000492737.1",
"transcript_support_level": 5,
"aa_start": 460,
"aa_end": null,
"aa_length": 518,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640634.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1282delG",
"hgvs_p": "p.Glu428fs",
"transcript": "ENST00000862445.1",
"protein_id": "ENSP00000532504.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 486,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862445.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1249delG",
"hgvs_p": "p.Glu417fs",
"transcript": "ENST00000639145.1",
"protein_id": "ENSP00000492831.1",
"transcript_support_level": 5,
"aa_start": 417,
"aa_end": null,
"aa_length": 475,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639145.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1237delG",
"hgvs_p": "p.Glu413fs",
"transcript": "ENST00000862444.1",
"protein_id": "ENSP00000532503.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 471,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862444.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.1258delG",
"hgvs_p": "p.Glu420fs",
"transcript": "ENST00000640957.1",
"protein_id": "ENSP00000492004.1",
"transcript_support_level": 5,
"aa_start": 420,
"aa_end": null,
"aa_length": 470,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640957.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1216delG",
"hgvs_p": "p.Glu406fs",
"transcript": "ENST00000862443.1",
"protein_id": "ENSP00000532502.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 464,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862443.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1258delG",
"hgvs_p": "p.Glu420fs",
"transcript": "ENST00000640640.1",
"protein_id": "ENSP00000492246.1",
"transcript_support_level": 5,
"aa_start": 420,
"aa_end": null,
"aa_length": 449,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 4608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640640.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1138delG",
"hgvs_p": "p.Glu380fs",
"transcript": "ENST00000638603.1",
"protein_id": "ENSP00000491728.1",
"transcript_support_level": 5,
"aa_start": 380,
"aa_end": null,
"aa_length": 438,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638603.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.1132delG",
"hgvs_p": "p.Glu378fs",
"transcript": "ENST00000921155.1",
"protein_id": "ENSP00000591214.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 436,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921155.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.1069delG",
"hgvs_p": "p.Glu357fs",
"transcript": "ENST00000862442.1",
"protein_id": "ENSP00000532501.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 415,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862442.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.829delG",
"hgvs_p": "p.Glu277fs",
"transcript": "NM_001204255.2",
"protein_id": "NP_001191184.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 335,
"cds_start": 829,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204255.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.829delG",
"hgvs_p": "p.Glu277fs",
"transcript": "ENST00000452464.6",
"protein_id": "ENSP00000399154.2",
"transcript_support_level": 2,
"aa_start": 277,
"aa_end": null,
"aa_length": 335,
"cds_start": 829,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452464.6"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.784delG",
"hgvs_p": "p.Glu262fs",
"transcript": "ENST00000638295.1",
"protein_id": "ENSP00000492288.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 320,
"cds_start": 784,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638295.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"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.346delG",
"hgvs_p": "p.Glu116fs",
"transcript": "ENST00000639738.1",
"protein_id": "ENSP00000491792.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 174,
"cds_start": 346,
"cds_end": null,
"cds_length": 525,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639738.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.70delG",
"hgvs_p": "p.Glu24fs",
"transcript": "ENST00000640880.1",
"protein_id": "ENSP00000491653.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 94,
"cds_start": 70,
"cds_end": null,
"cds_length": 285,
"cdna_start": 71,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640880.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.784delG",
"hgvs_p": "p.Glu262fs",
"transcript": "XM_047416429.1",
"protein_id": "XP_047272385.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 320,
"cds_start": 784,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416429.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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": "c.784delG",
"hgvs_p": "p.Glu262fs",
"transcript": "XM_047416430.1",
"protein_id": "XP_047272386.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 320,
"cds_start": 784,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1237,
"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.634delG",
"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.4376delG",
"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.*40delG",
"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,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000638663.1"
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{
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"PM2",
"PP5"
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"verdict": "Pathogenic",
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{
"score": 3,
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Action myoclonus-renal failure syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Action myoclonus-renal failure syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}