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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: 3-14148694-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14148694&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 14148694,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000285021.12",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "c.2287delC",
"hgvs_p": "p.Leu763fs",
"transcript": "NM_004628.5",
"protein_id": "NP_004619.3",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 940,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": "ENST00000285021.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "c.2287delC",
"hgvs_p": "p.Leu763fs",
"transcript": "ENST00000285021.12",
"protein_id": "ENSP00000285021.8",
"transcript_support_level": 1,
"aa_start": 763,
"aa_end": null,
"aa_length": 940,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": "NM_004628.5",
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "n.*1740delC",
"hgvs_p": null,
"transcript": "ENST00000476581.6",
"protein_id": "ENSP00000424548.1",
"transcript_support_level": 1,
"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": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "n.*1740delC",
"hgvs_p": null,
"transcript": "ENST00000476581.6",
"protein_id": "ENSP00000424548.1",
"transcript_support_level": 1,
"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": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "c.2281delC",
"hgvs_p": "p.Leu761fs",
"transcript": "NM_001354727.2",
"protein_id": "NP_001341656.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 938,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "c.2281delC",
"hgvs_p": "p.Leu761fs",
"transcript": "ENST00000850575.1",
"protein_id": "ENSP00000520865.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 938,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "c.2269delC",
"hgvs_p": "p.Leu757fs",
"transcript": "NM_001354729.2",
"protein_id": "NP_001341658.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 934,
"cds_start": 2269,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "c.2041delC",
"hgvs_p": "p.Leu681fs",
"transcript": "NM_001354730.2",
"protein_id": "NP_001341659.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 858,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 3404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "c.1708delC",
"hgvs_p": "p.Leu570fs",
"transcript": "NM_001354726.2",
"protein_id": "NP_001341655.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 747,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "c.2287delC",
"hgvs_p": "p.Leu763fs",
"transcript": "XM_047448864.1",
"protein_id": "XP_047304820.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 851,
"cds_start": 2287,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 2807,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "n.152delC",
"hgvs_p": null,
"transcript": "ENST00000427795.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 820,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC-AS1",
"gene_hgnc_id": 55014,
"hgvs_c": "n.100delG",
"hgvs_p": null,
"transcript": "ENST00000626655.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 821,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC-AS1",
"gene_hgnc_id": 55014,
"hgvs_c": "n.295delG",
"hgvs_p": null,
"transcript": "ENST00000627116.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 559,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC-AS1",
"gene_hgnc_id": 55014,
"hgvs_c": "n.1056delG",
"hgvs_p": null,
"transcript": "ENST00000628785.2",
"protein_id": null,
"transcript_support_level": 5,
"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,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC-AS1",
"gene_hgnc_id": 55014,
"hgvs_c": "n.411delG",
"hgvs_p": null,
"transcript": "ENST00000629301.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 913,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "n.*1740delC",
"hgvs_p": null,
"transcript": "ENST00000850573.1",
"protein_id": "ENSP00000520863.1",
"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": 4048,
"mane_select": null,
"mane_plus": null,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "n.2159delC",
"hgvs_p": null,
"transcript": "NR_148950.2",
"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": 3489,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "n.2035delC",
"hgvs_p": null,
"transcript": "NR_148951.2",
"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": 3365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPC",
"gene_hgnc_id": 12816,
"hgvs_c": "n.*1740delC",
"hgvs_p": null,
"transcript": "ENST00000850573.1",
"protein_id": "ENSP00000520863.1",
"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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"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "XPC-AS1",
"gene_hgnc_id": 55014,
"hgvs_c": "n.85-1146delG",
"hgvs_p": null,
"transcript": "ENST00000627997.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "XPC-AS1",
"gene_hgnc_id": 55014,
"hgvs_c": "n.312-1146delG",
"hgvs_p": null,
"transcript": "ENST00000628760.2",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "XPC-AS1",
"gene_hgnc_id": 55014,
"hgvs_c": "n.87+3240delG",
"hgvs_p": null,
"transcript": "ENST00000628978.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "XPC-AS1",
"gene_hgnc_id": 55014,
"hgvs_c": "n.80-1146delG",
"hgvs_p": null,
"transcript": "ENST00000629796.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
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"exon_count": 7,
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"gene_symbol": "XPC-AS1",
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"transcript": "ENST00000630173.2",
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"cds_start": -4,
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},
{
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],
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"exon_count": 3,
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"gene_symbol": "XPC-AS1",
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"transcript": "ENST00000630772.2",
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},
{
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"intron_variant"
],
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"exon_count": 14,
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"gene_symbol": "XPC",
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"hgvs_c": "n.*115+119delC",
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"transcript": "ENST00000850574.1",
"protein_id": "ENSP00000520864.1",
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},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 2,
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"gene_symbol": "XPC-AS1",
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"hgvs_c": "n.*164delG",
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"transcript": "ENST00000629708.2",
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}
],
"gene_symbol": "XPC",
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"dbsnp": "rs1553604559",
"frequency_reference_population": 0.0000013682604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136826,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.658,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"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": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000285021.12",
"gene_symbol": "XPC",
"hgnc_id": 12816,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2287delC",
"hgvs_p": "p.Leu763fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000626655.2",
"gene_symbol": "XPC-AS1",
"hgnc_id": 55014,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.100delG",
"hgvs_p": null
}
],
"clinvar_disease": " group C,Xeroderma pigmentosum,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Xeroderma pigmentosum, group C|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}