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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: 10-34331221-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=34331221&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 34331221,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000374788.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2729C>G",
"hgvs_p": "p.Pro910Arg",
"transcript": "NM_001184785.2",
"protein_id": "NP_001171714.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2729,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "ENST00000374788.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2729C>G",
"hgvs_p": "p.Pro910Arg",
"transcript": "ENST00000374788.8",
"protein_id": "ENSP00000363920.3",
"transcript_support_level": 1,
"aa_start": 910,
"aa_end": null,
"aa_length": 1353,
"cds_start": 2729,
"cds_end": null,
"cds_length": 4062,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": "NM_001184785.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2738C>G",
"hgvs_p": "p.Pro913Arg",
"transcript": "ENST00000374789.8",
"protein_id": "ENSP00000363921.3",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 1356,
"cds_start": 2738,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 5980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2690C>G",
"hgvs_p": "p.Pro897Arg",
"transcript": "ENST00000545693.5",
"protein_id": "ENSP00000443147.1",
"transcript_support_level": 1,
"aa_start": 897,
"aa_end": null,
"aa_length": 1340,
"cds_start": 2690,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2738C>G",
"hgvs_p": "p.Pro913Arg",
"transcript": "ENST00000346874.9",
"protein_id": "ENSP00000340591.4",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 5869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2600C>G",
"hgvs_p": "p.Pro867Arg",
"transcript": "ENST00000350537.9",
"protein_id": "ENSP00000311986.6",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 1310,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3933,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2468C>G",
"hgvs_p": "p.Pro823Arg",
"transcript": "ENST00000545260.5",
"protein_id": "ENSP00000440857.1",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 1266,
"cds_start": 2468,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 5740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2513C>G",
"hgvs_p": "p.Pro838Arg",
"transcript": "ENST00000374794.8",
"protein_id": "ENSP00000363926.3",
"transcript_support_level": 1,
"aa_start": 838,
"aa_end": null,
"aa_length": 1244,
"cds_start": 2513,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2729C>G",
"hgvs_p": "p.Pro910Arg",
"transcript": "ENST00000340077.9",
"protein_id": "ENSP00000341844.5",
"transcript_support_level": 1,
"aa_start": 910,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2729,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 3059,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2600C>G",
"hgvs_p": "p.Pro867Arg",
"transcript": "ENST00000374776.6",
"protein_id": "ENSP00000363908.1",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 988,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.1877C>G",
"hgvs_p": "p.Pro626Arg",
"transcript": "ENST00000544292.5",
"protein_id": "ENSP00000444429.1",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 747,
"cds_start": 1877,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2738C>G",
"hgvs_p": "p.Pro913Arg",
"transcript": "NM_019619.4",
"protein_id": "NP_062565.2",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1356,
"cds_start": 2738,
"cds_end": null,
"cds_length": 4071,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 5980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2690C>G",
"hgvs_p": "p.Pro897Arg",
"transcript": "NM_001184786.2",
"protein_id": "NP_001171715.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1340,
"cds_start": 2690,
"cds_end": null,
"cds_length": 4023,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 5932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2657C>G",
"hgvs_p": "p.Pro886Arg",
"transcript": "ENST00000696673.1",
"protein_id": "ENSP00000512797.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1329,
"cds_start": 2657,
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"cds_length": 3990,
"cdna_start": 3342,
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"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2738C>G",
"hgvs_p": "p.Pro913Arg",
"transcript": "NM_001184787.2",
"protein_id": "NP_001171716.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1319,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 3039,
"cdna_end": null,
"cdna_length": 5869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2600C>G",
"hgvs_p": "p.Pro867Arg",
"transcript": "NM_001184788.2",
"protein_id": "NP_001171717.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
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"cds_start": 2600,
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"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2558C>G",
"hgvs_p": "p.Pro853Arg",
"transcript": "ENST00000374790.8",
"protein_id": "ENSP00000363922.3",
"transcript_support_level": 5,
"aa_start": 853,
"aa_end": null,
"aa_length": 1296,
"cds_start": 2558,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2600C>G",
"hgvs_p": "p.Pro867Arg",
"transcript": "NM_001184789.2",
"protein_id": "NP_001171718.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1273,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 2901,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2468C>G",
"hgvs_p": "p.Pro823Arg",
"transcript": "NM_001184790.2",
"protein_id": "NP_001171719.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
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"cds_start": 2468,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2513C>G",
"hgvs_p": "p.Pro838Arg",
"transcript": "NM_001184791.2",
"protein_id": "NP_001171720.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 1244,
"cds_start": 2513,
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"cdna_start": 2814,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2729C>G",
"hgvs_p": "p.Pro910Arg",
"transcript": "NM_001184792.2",
"protein_id": "NP_001171721.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1031,
"cds_start": 2729,
"cds_end": null,
"cds_length": 3096,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"hgvs_c": "c.2639C>G",
"hgvs_p": "p.Pro880Arg",
"transcript": "ENST00000374773.6",
"protein_id": "ENSP00000363905.1",
"transcript_support_level": 5,
"aa_start": 880,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2639,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2940,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "PARD3",
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},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": false,
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],
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"gene_symbol": "PARD3",
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"hgvs_p": "p.Pro867Arg",
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"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": 2,
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"exon_count": 5,
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"gene_symbol": "PARD3",
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"hgvs_c": "n.246C>G",
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"transcript": "ENST00000466092.1",
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 806,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PARD3",
"gene_hgnc_id": 16051,
"dbsnp": "rs781461462",
"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,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5593100786209106,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.568,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000374788.8",
"gene_symbol": "PARD3",
"hgnc_id": 16051,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2729C>G",
"hgvs_p": "p.Pro910Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}