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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: 11-95821875-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95821875&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95821875,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000325542.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.704A>C",
"hgvs_p": "p.Gln235Pro",
"transcript": "NM_014679.5",
"protein_id": "NP_055494.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 500,
"cds_start": 704,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000325542.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.704A>C",
"hgvs_p": "p.Gln235Pro",
"transcript": "ENST00000325542.10",
"protein_id": "ENSP00000317902.5",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 500,
"cds_start": 704,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_014679.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.704A>C",
"hgvs_p": "p.Gln235Pro",
"transcript": "ENST00000325486.9",
"protein_id": "ENSP00000317487.5",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 474,
"cds_start": 704,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.704A>C",
"hgvs_p": "p.Gln235Pro",
"transcript": "ENST00000538658.5",
"protein_id": "ENSP00000445706.1",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 270,
"cds_start": 704,
"cds_end": null,
"cds_length": 813,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 2084,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*468A>C",
"hgvs_p": null,
"transcript": "ENST00000540830.5",
"protein_id": "ENSP00000440996.1",
"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": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*468A>C",
"hgvs_p": null,
"transcript": "ENST00000540830.5",
"protein_id": "ENSP00000440996.1",
"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": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.677A>C",
"hgvs_p": "p.Gln226Pro",
"transcript": "NM_001243776.2",
"protein_id": "NP_001230705.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 491,
"cds_start": 677,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.677A>C",
"hgvs_p": "p.Gln226Pro",
"transcript": "ENST00000541150.5",
"protein_id": "ENSP00000443436.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 491,
"cds_start": 677,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.704A>C",
"hgvs_p": "p.Gln235Pro",
"transcript": "NM_001243777.2",
"protein_id": "NP_001230706.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 474,
"cds_start": 704,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.623A>C",
"hgvs_p": "p.Gln208Pro",
"transcript": "NM_001363604.2",
"protein_id": "NP_001350533.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 473,
"cds_start": 623,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.623A>C",
"hgvs_p": "p.Gln208Pro",
"transcript": "NM_001440869.1",
"protein_id": "NP_001427798.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 473,
"cds_start": 623,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.623A>C",
"hgvs_p": "p.Gln208Pro",
"transcript": "NM_001440870.1",
"protein_id": "NP_001427799.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 473,
"cds_start": 623,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.623A>C",
"hgvs_p": "p.Gln208Pro",
"transcript": "ENST00000537677.5",
"protein_id": "ENSP00000441392.1",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 473,
"cds_start": 623,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.Gln196Pro",
"transcript": "NM_001440872.1",
"protein_id": "NP_001427801.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 461,
"cds_start": 587,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.524A>C",
"hgvs_p": "p.Gln175Pro",
"transcript": "NM_001440873.1",
"protein_id": "NP_001427802.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 440,
"cds_start": 524,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.Gln196Pro",
"transcript": "NM_001440876.1",
"protein_id": "NP_001427805.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 435,
"cds_start": 587,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.506A>C",
"hgvs_p": "p.Gln169Pro",
"transcript": "NM_001440877.1",
"protein_id": "NP_001427806.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 434,
"cds_start": 506,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.506A>C",
"hgvs_p": "p.Gln169Pro",
"transcript": "NM_001440878.1",
"protein_id": "NP_001427807.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 434,
"cds_start": 506,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.443A>C",
"hgvs_p": "p.Gln148Pro",
"transcript": "NM_001440880.1",
"protein_id": "NP_001427809.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 413,
"cds_start": 443,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.407A>C",
"hgvs_p": "p.Gln136Pro",
"transcript": "NM_001440881.1",
"protein_id": "NP_001427810.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 401,
"cds_start": 407,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.149A>C",
"hgvs_p": "p.Gln50Pro",
"transcript": "ENST00000535224.1",
"protein_id": "ENSP00000440256.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 252,
"cds_start": 149,
"cds_end": null,
"cds_length": 759,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "c.677A>C",
"hgvs_p": "p.Gln226Pro",
"transcript": "XM_017018592.2",
"protein_id": "XP_016874081.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 491,
"cds_start": 677,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 3252,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57",
"gene_hgnc_id": 30794,
"hgvs_c": "n.*483A>C",
"hgvs_p": null,
"transcript": "ENST00000539855.5",
"protein_id": "ENSP00000437422.1",
"transcript_support_level": 5,
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{
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}
],
"message": null
}