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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: 2-208325908-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208325908&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 208325908,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015040.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3097T>G",
"hgvs_p": "p.Ser1033Ala",
"transcript": "NM_015040.4",
"protein_id": "NP_055855.2",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3097,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3267,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "ENST00000264380.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015040.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3097T>G",
"hgvs_p": "p.Ser1033Ala",
"transcript": "ENST00000264380.9",
"protein_id": "ENSP00000264380.4",
"transcript_support_level": 1,
"aa_start": 1033,
"aa_end": null,
"aa_length": 2098,
"cds_start": 3097,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 3267,
"cdna_end": null,
"cdna_length": 9908,
"mane_select": "NM_015040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264380.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.*2448T>G",
"hgvs_p": null,
"transcript": "ENST00000443896.5",
"protein_id": "ENSP00000407692.1",
"transcript_support_level": 1,
"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": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443896.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "n.*2448T>G",
"hgvs_p": null,
"transcript": "ENST00000443896.5",
"protein_id": "ENSP00000407692.1",
"transcript_support_level": 1,
"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": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443896.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3112T>G",
"hgvs_p": "p.Ser1038Ala",
"transcript": "ENST00000909798.1",
"protein_id": "ENSP00000579857.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 2103,
"cds_start": 3112,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 3289,
"cdna_end": null,
"cdna_length": 7835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909798.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3079T>G",
"hgvs_p": "p.Ser1027Ala",
"transcript": "ENST00000923116.1",
"protein_id": "ENSP00000593175.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 2092,
"cds_start": 3079,
"cds_end": null,
"cds_length": 6279,
"cdna_start": 3120,
"cdna_end": null,
"cdna_length": 9743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923116.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2911T>G",
"hgvs_p": "p.Ser971Ala",
"transcript": "ENST00000923111.1",
"protein_id": "ENSP00000593170.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 2036,
"cds_start": 2911,
"cds_end": null,
"cds_length": 6111,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 9737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923111.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2806T>G",
"hgvs_p": "p.Ser936Ala",
"transcript": "ENST00000923110.1",
"protein_id": "ENSP00000593169.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 2001,
"cds_start": 2806,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 9501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923110.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2806T>G",
"hgvs_p": "p.Ser936Ala",
"transcript": "ENST00000923112.1",
"protein_id": "ENSP00000593171.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 2001,
"cds_start": 2806,
"cds_end": null,
"cds_length": 6006,
"cdna_start": 2984,
"cdna_end": null,
"cdna_length": 9626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923112.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2800T>G",
"hgvs_p": "p.Ser934Ala",
"transcript": "ENST00000923117.1",
"protein_id": "ENSP00000593176.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 1999,
"cds_start": 2800,
"cds_end": null,
"cds_length": 6000,
"cdna_start": 2876,
"cdna_end": null,
"cdna_length": 9514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923117.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2788T>G",
"hgvs_p": "p.Ser930Ala",
"transcript": "ENST00000923113.1",
"protein_id": "ENSP00000593172.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 1995,
"cds_start": 2788,
"cds_end": null,
"cds_length": 5988,
"cdna_start": 2978,
"cdna_end": null,
"cdna_length": 9604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923113.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2656T>G",
"hgvs_p": "p.Ser886Ala",
"transcript": "ENST00000960156.1",
"protein_id": "ENSP00000630215.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1951,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 9485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960156.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2656T>G",
"hgvs_p": "p.Ser886Ala",
"transcript": "ENST00000960157.1",
"protein_id": "ENSP00000630216.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1951,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5856,
"cdna_start": 2838,
"cdna_end": null,
"cdna_length": 9483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960157.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2638T>G",
"hgvs_p": "p.Ser880Ala",
"transcript": "ENST00000923115.1",
"protein_id": "ENSP00000593174.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1945,
"cds_start": 2638,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 9447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923115.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2656T>G",
"hgvs_p": "p.Ser886Ala",
"transcript": "ENST00000960158.1",
"protein_id": "ENSP00000630217.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1896,
"cds_start": 2656,
"cds_end": null,
"cds_length": 5691,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 9259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960158.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2488T>G",
"hgvs_p": "p.Ser830Ala",
"transcript": "ENST00000923114.1",
"protein_id": "ENSP00000593173.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1895,
"cds_start": 2488,
"cds_end": null,
"cds_length": 5688,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 9300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923114.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.2929T>G",
"hgvs_p": "p.Ser977Ala",
"transcript": "ENST00000452564.1",
"protein_id": "ENSP00000405736.1",
"transcript_support_level": 2,
"aa_start": 977,
"aa_end": null,
"aa_length": 1383,
"cds_start": 2929,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 2991,
"cdna_end": null,
"cdna_length": 4214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452564.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3133T>G",
"hgvs_p": "p.Ser1045Ala",
"transcript": "XM_011510778.4",
"protein_id": "XP_011509080.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3133,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 9944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510778.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3133T>G",
"hgvs_p": "p.Ser1045Ala",
"transcript": "XM_011510779.3",
"protein_id": "XP_011509081.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 2110,
"cds_start": 3133,
"cds_end": null,
"cds_length": 6333,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 10001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510779.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3130T>G",
"hgvs_p": "p.Ser1044Ala",
"transcript": "XM_011510780.3",
"protein_id": "XP_011509082.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 2109,
"cds_start": 3130,
"cds_end": null,
"cds_length": 6330,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 9941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510780.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3115T>G",
"hgvs_p": "p.Ser1039Ala",
"transcript": "XM_011510781.4",
"protein_id": "XP_011509083.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 2104,
"cds_start": 3115,
"cds_end": null,
"cds_length": 6315,
"cdna_start": 3285,
"cdna_end": null,
"cdna_length": 9926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510781.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIKFYVE",
"gene_hgnc_id": 23785,
"hgvs_c": "c.3097T>G",
"hgvs_p": "p.Ser1033Ala",
"transcript": "XM_047443667.1",
"protein_id": "XP_047299623.1",
"transcript_support_level": null,
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"phenotype_combined": "Fleck corneal dystrophy|not provided",
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}
],
"message": null
}