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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: 14-50341157-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50341157&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CDKL1",
"hgnc_id": 1781,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_004196.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 69,
"alphamissense_prediction": null,
"alphamissense_score": 0.1021,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21655231714248657,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5402,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_004196.7",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395834.6",
"protein_coding": true,
"protein_id": "NP_004187.3",
"strand": false,
"transcript": "NM_004196.7",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5402,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000395834.6",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004196.7",
"protein_coding": true,
"protein_id": "ENSP00000379176.2",
"strand": false,
"transcript": "ENST00000395834.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 276,
"aa_ref": "T",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 831,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000216378.2",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.533C>T",
"hgvs_p": "p.Thr178Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000216378.2",
"strand": false,
"transcript": "ENST00000216378.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000356146.5",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "n.2546C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000356146.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001423761.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001410690.1",
"strand": false,
"transcript": "NM_001423761.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5483,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001423762.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001410691.1",
"strand": false,
"transcript": "NM_001423762.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5425,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001423763.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001410692.1",
"strand": false,
"transcript": "NM_001423763.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906201.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576260.1",
"strand": false,
"transcript": "ENST00000906201.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906202.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576261.1",
"strand": false,
"transcript": "ENST00000906202.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000941216.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611275.1",
"strand": false,
"transcript": "ENST00000941216.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000941217.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611276.1",
"strand": false,
"transcript": "ENST00000941217.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 357,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1074,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000941218.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611277.1",
"strand": false,
"transcript": "ENST00000941218.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5345,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1017,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001423764.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001410693.1",
"strand": false,
"transcript": "NM_001423764.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 308,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4919,
"cdna_start": 566,
"cds_end": null,
"cds_length": 927,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001423765.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Thr128Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001410694.1",
"strand": false,
"transcript": "NM_001423765.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 308,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5449,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 927,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001423766.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Thr128Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001410695.1",
"strand": false,
"transcript": "NM_001423766.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 300,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5254,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 903,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001367064.3",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353993.2",
"strand": false,
"transcript": "NM_001367064.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 300,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5312,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 903,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001367065.3",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353994.2",
"strand": false,
"transcript": "NM_001367065.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 300,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5231,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 903,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001423767.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001410696.1",
"strand": false,
"transcript": "NM_001423767.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 275,
"aa_ref": "T",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 828,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282236.3",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269165.2",
"strand": false,
"transcript": "NM_001282236.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 251,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5278,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 756,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001423768.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Thr128Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001410697.1",
"strand": false,
"transcript": "NM_001423768.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 251,
"aa_ref": "T",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4748,
"cdna_start": 566,
"cds_end": null,
"cds_length": 756,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001423769.1",
"gene_hgnc_id": 1781,
"gene_symbol": "CDKL1",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Thr128Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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