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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: 1-151406271-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151406271&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151406271,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000271715.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2763delC",
"hgvs_p": "p.Thr922fs",
"transcript": "NM_015100.4",
"protein_id": "NP_055915.2",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2763,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000271715.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2763delC",
"hgvs_p": "p.Thr922fs",
"transcript": "ENST00000271715.7",
"protein_id": "ENSP00000271715.2",
"transcript_support_level": 1,
"aa_start": 921,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2763,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_015100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2604delC",
"hgvs_p": "p.Thr869fs",
"transcript": "ENST00000392723.6",
"protein_id": "ENSP00000376484.1",
"transcript_support_level": 1,
"aa_start": 868,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2604,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2478delC",
"hgvs_p": "p.Thr827fs",
"transcript": "ENST00000368863.6",
"protein_id": "ENSP00000357856.2",
"transcript_support_level": 1,
"aa_start": 826,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2478,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2811delC",
"hgvs_p": "p.Thr938fs",
"transcript": "ENST00000710270.1",
"protein_id": "ENSP00000518163.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
"aa_length": 1426,
"cds_start": 2811,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3107,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2784delC",
"hgvs_p": "p.Thr929fs",
"transcript": "NM_001410860.1",
"protein_id": "NP_001397789.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2784,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2784delC",
"hgvs_p": "p.Thr929fs",
"transcript": "ENST00000703168.1",
"protein_id": "ENSP00000515214.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1417,
"cds_start": 2784,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2763delC",
"hgvs_p": "p.Thr922fs",
"transcript": "ENST00000439756.2",
"protein_id": "ENSP00000390156.2",
"transcript_support_level": 3,
"aa_start": 921,
"aa_end": null,
"aa_length": 1410,
"cds_start": 2763,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4342,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2736delC",
"hgvs_p": "p.Thr913fs",
"transcript": "NM_001194937.2",
"protein_id": "NP_001181866.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2736,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 3080,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2736delC",
"hgvs_p": "p.Thr913fs",
"transcript": "ENST00000409503.5",
"protein_id": "ENSP00000386836.1",
"transcript_support_level": 2,
"aa_start": 912,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2736,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2631delC",
"hgvs_p": "p.Thr878fs",
"transcript": "ENST00000491586.5",
"protein_id": "ENSP00000418408.1",
"transcript_support_level": 5,
"aa_start": 877,
"aa_end": null,
"aa_length": 1366,
"cds_start": 2631,
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"cds_length": 4101,
"cdna_start": 2660,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 17,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "POGZ",
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"hgvs_c": "c.2604delC",
"hgvs_p": "p.Thr869fs",
"transcript": "NM_207171.2",
"protein_id": "NP_997054.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2604,
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"cdna_start": 2605,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2577delC",
"hgvs_p": "p.Thr860fs",
"transcript": "NM_001194938.2",
"protein_id": "NP_001181867.1",
"transcript_support_level": null,
"aa_start": 859,
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"aa_length": 1348,
"cds_start": 2577,
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"cdna_start": 2921,
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},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
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],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2577delC",
"hgvs_p": "p.Thr860fs",
"transcript": "ENST00000531094.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 17,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2478delC",
"hgvs_p": "p.Thr827fs",
"transcript": "NM_145796.4",
"protein_id": "NP_665739.3",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 1315,
"cds_start": 2478,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2763delC",
"hgvs_p": "p.Thr922fs",
"transcript": "XM_005245000.5",
"protein_id": "XP_005245057.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2763delC",
"hgvs_p": "p.Thr922fs",
"transcript": "XM_047450064.1",
"protein_id": "XP_047306020.1",
"transcript_support_level": null,
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"cdna_start": 2803,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2757delC",
"hgvs_p": "p.Thr920fs",
"transcript": "XM_047450065.1",
"protein_id": "XP_047306021.1",
"transcript_support_level": null,
"aa_start": 919,
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"cds_start": 2757,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 19,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2736delC",
"hgvs_p": "p.Thr913fs",
"transcript": "XM_017000746.2",
"protein_id": "XP_016856235.1",
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},
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"consequences": [
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],
"exon_rank": 18,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2625delC",
"hgvs_p": "p.Thr876fs",
"transcript": "XM_017000748.2",
"protein_id": "XP_016856237.2",
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},
{
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],
"exon_rank": 18,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2604delC",
"hgvs_p": "p.Thr869fs",
"transcript": "XM_005245005.3",
"protein_id": "XP_005245062.1",
"transcript_support_level": null,
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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": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2598delC",
"hgvs_p": "p.Thr867fs",
"transcript": "XM_047450068.1",
"protein_id": "XP_047306024.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1355,
"cds_start": 2598,
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"cds_length": 4068,
"cdna_start": 2718,
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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": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
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},
{
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],
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},
{
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "POGZ",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "POGZ",
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"hgvs_c": "c.*14delC",
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"protein_id": "ENSP00000432295.1",
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"feature": null
}
],
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"dbsnp": "rs864321672",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"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": -2.566,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000271715.7",
"gene_symbol": "POGZ",
"hgnc_id": 18801,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2763delC",
"hgvs_p": "p.Thr922fs"
}
],
"clinvar_disease": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}