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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: 22-20779543-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20779543&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20779543,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000185.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"hgvs_c": "c.231C>A",
"hgvs_p": "p.Asp77Glu",
"transcript": "NM_000185.4",
"protein_id": "NP_000176.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 499,
"cds_start": 231,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215727.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000185.4"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"hgvs_c": "c.231C>A",
"hgvs_p": "p.Asp77Glu",
"transcript": "ENST00000215727.10",
"protein_id": "ENSP00000215727.5",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 499,
"cds_start": 231,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000185.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215727.10"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"hgvs_c": "c.231C>A",
"hgvs_p": "p.Asp77Glu",
"transcript": "ENST00000406799.1",
"protein_id": "ENSP00000384050.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 499,
"cds_start": 231,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "NM_058004.4",
"protein_id": "NP_477352.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2102,
"cds_start": null,
"cds_end": null,
"cds_length": 6309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255882.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058004.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000255882.11",
"protein_id": "ENSP00000255882.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2102,
"cds_start": null,
"cds_end": null,
"cds_length": 6309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058004.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255882.11"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"hgvs_c": "c.231C>A",
"hgvs_p": "p.Asp77Glu",
"transcript": "ENST00000881285.1",
"protein_id": "ENSP00000551344.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 499,
"cds_start": 231,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881285.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPIND1",
"gene_hgnc_id": 4838,
"hgvs_c": "c.231C>A",
"hgvs_p": "p.Asp77Glu",
"transcript": "ENST00000881286.1",
"protein_id": "ENSP00000551345.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 461,
"cds_start": 231,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881286.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000939414.1",
"protein_id": "ENSP00000609473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2114,
"cds_start": null,
"cds_end": null,
"cds_length": 6345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939414.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000939412.1",
"protein_id": "ENSP00000609471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2106,
"cds_start": null,
"cds_end": null,
"cds_length": 6321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2322+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000957004.1",
"protein_id": "ENSP00000627063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2100,
"cds_start": null,
"cds_end": null,
"cds_length": 6303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957004.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000939415.1",
"protein_id": "ENSP00000609474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2098,
"cds_start": null,
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"cds_length": 6297,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939415.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000880812.1",
"protein_id": "ENSP00000550871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2095,
"cds_start": null,
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"cds_length": 6288,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880812.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000939409.1",
"protein_id": "ENSP00000609468.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000939409.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 55,
"intron_rank": 19,
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"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
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"transcript": "ENST00000939416.1",
"protein_id": "ENSP00000609475.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939416.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2262+13650G>T",
"hgvs_p": null,
"transcript": "NM_001362863.2",
"protein_id": "NP_001349792.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2080,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362863.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 54,
"intron_rank": 18,
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"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2262+13650G>T",
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"transcript": "ENST00000880811.1",
"protein_id": "ENSP00000550870.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880811.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000939410.1",
"protein_id": "ENSP00000609469.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2072,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939410.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "NM_001362862.2",
"protein_id": "NP_001349791.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001362862.2"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 54,
"intron_rank": 19,
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"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
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"transcript": "ENST00000939411.1",
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"biotype": "protein_coding",
"feature": "ENST00000939411.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 54,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2232+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000939413.1",
"protein_id": "ENSP00000609472.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 54,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2328+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000957003.1",
"protein_id": "ENSP00000627062.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PI4KA",
"gene_hgnc_id": 8983,
"hgvs_c": "c.2211+13650G>T",
"hgvs_p": null,
"transcript": "ENST00000880813.1",
"protein_id": "ENSP00000550872.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880813.1"
},
{
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"canonical": false,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
"score": -9,
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"verdict": "Benign",
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{
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],
"clinvar_disease": "Heparin cofactor II deficiency,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:2",
"phenotype_combined": "not provided|Heparin cofactor II deficiency",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}