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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: 11-95821890-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95821890&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95821890,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014679.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"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.719C>A",
"hgvs_p": "p.Thr240Lys",
"transcript": "NM_014679.5",
"protein_id": "NP_055494.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 500,
"cds_start": 719,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "ENST00000325542.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.719C>A",
"hgvs_p": "p.Thr240Lys",
"transcript": "ENST00000325542.10",
"protein_id": "ENSP00000317902.5",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 500,
"cds_start": 719,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": "NM_014679.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.719C>A",
"hgvs_p": "p.Thr240Lys",
"transcript": "ENST00000325486.9",
"protein_id": "ENSP00000317487.5",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 474,
"cds_start": 719,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.719C>A",
"hgvs_p": "p.Thr240Lys",
"transcript": "ENST00000538658.5",
"protein_id": "ENSP00000445706.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 270,
"cds_start": 719,
"cds_end": null,
"cds_length": 813,
"cdna_start": 759,
"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.*483C>A",
"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.*483C>A",
"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": "T",
"aa_alt": "K",
"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.692C>A",
"hgvs_p": "p.Thr231Lys",
"transcript": "NM_001243776.2",
"protein_id": "NP_001230705.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 491,
"cds_start": 692,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.692C>A",
"hgvs_p": "p.Thr231Lys",
"transcript": "ENST00000541150.5",
"protein_id": "ENSP00000443436.1",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 491,
"cds_start": 692,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.719C>A",
"hgvs_p": "p.Thr240Lys",
"transcript": "NM_001243777.2",
"protein_id": "NP_001230706.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 474,
"cds_start": 719,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.638C>A",
"hgvs_p": "p.Thr213Lys",
"transcript": "NM_001363604.2",
"protein_id": "NP_001350533.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 473,
"cds_start": 638,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.638C>A",
"hgvs_p": "p.Thr213Lys",
"transcript": "NM_001440869.1",
"protein_id": "NP_001427798.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 473,
"cds_start": 638,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.638C>A",
"hgvs_p": "p.Thr213Lys",
"transcript": "NM_001440870.1",
"protein_id": "NP_001427799.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 473,
"cds_start": 638,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.638C>A",
"hgvs_p": "p.Thr213Lys",
"transcript": "ENST00000537677.5",
"protein_id": "ENSP00000441392.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 473,
"cds_start": 638,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.602C>A",
"hgvs_p": "p.Thr201Lys",
"transcript": "NM_001440872.1",
"protein_id": "NP_001427801.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 461,
"cds_start": 602,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.539C>A",
"hgvs_p": "p.Thr180Lys",
"transcript": "NM_001440873.1",
"protein_id": "NP_001427802.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 440,
"cds_start": 539,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.602C>A",
"hgvs_p": "p.Thr201Lys",
"transcript": "NM_001440876.1",
"protein_id": "NP_001427805.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 435,
"cds_start": 602,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.521C>A",
"hgvs_p": "p.Thr174Lys",
"transcript": "NM_001440877.1",
"protein_id": "NP_001427806.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 434,
"cds_start": 521,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.521C>A",
"hgvs_p": "p.Thr174Lys",
"transcript": "NM_001440878.1",
"protein_id": "NP_001427807.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 434,
"cds_start": 521,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.458C>A",
"hgvs_p": "p.Thr153Lys",
"transcript": "NM_001440880.1",
"protein_id": "NP_001427809.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 413,
"cds_start": 458,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.422C>A",
"hgvs_p": "p.Thr141Lys",
"transcript": "NM_001440881.1",
"protein_id": "NP_001427810.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 401,
"cds_start": 422,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.164C>A",
"hgvs_p": "p.Thr55Lys",
"transcript": "ENST00000535224.1",
"protein_id": "ENSP00000440256.1",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 252,
"cds_start": 164,
"cds_end": null,
"cds_length": 759,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"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.692C>A",
"hgvs_p": "p.Thr231Lys",
"transcript": "XM_017018592.2",
"protein_id": "XP_016874081.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 491,
"cds_start": 692,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1031,
"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.*498C>A",
"hgvs_p": null,
"transcript": "ENST00000539855.5",
"protein_id": "ENSP00000437422.1",
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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],
"verdict": "Uncertain_significance",
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{
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}