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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: 2-165932985-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=165932985&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TTC21B",
"hgnc_id": 25660,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_024753.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.23999999463558197,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5415,
"cdna_start": 854,
"cds_end": null,
"cds_length": 3951,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024753.5",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000243344.8",
"protein_coding": true,
"protein_id": "NP_079029.3",
"strand": false,
"transcript": "NM_024753.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1316,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5415,
"cdna_start": 854,
"cds_end": null,
"cds_length": 3951,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000243344.8",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024753.5",
"protein_coding": true,
"protein_id": "ENSP00000243344.7",
"strand": false,
"transcript": "ENST00000243344.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000464374.5",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.823G>A",
"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": "ENST00000464374.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1323,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5722,
"cdna_start": 894,
"cds_end": null,
"cds_length": 3972,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679840.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505248.1",
"strand": false,
"transcript": "ENST00000679840.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7544,
"cdna_start": 894,
"cds_end": null,
"cds_length": 3825,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679799.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505208.1",
"strand": false,
"transcript": "ENST00000679799.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5216,
"cdna_start": 885,
"cds_end": null,
"cds_length": 3723,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000959804.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629863.1",
"strand": false,
"transcript": "ENST00000959804.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 919,
"cds_end": null,
"cds_length": 3171,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000680448.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505921.1",
"strand": false,
"transcript": "ENST00000680448.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3801,
"cdna_start": 894,
"cds_end": null,
"cds_length": 3015,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000681606.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505354.1",
"strand": false,
"transcript": "ENST00000681606.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7261,
"cdna_start": 854,
"cds_end": null,
"cds_length": 3945,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017004967.2",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860456.1",
"strand": false,
"transcript": "XM_017004967.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1098,
"aa_ref": "G",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8819,
"cdna_start": 4258,
"cds_end": null,
"cds_length": 3297,
"cds_start": 129,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047445870.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.129G>A",
"hgvs_p": "p.Gly43Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301826.1",
"strand": false,
"transcript": "XM_047445870.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1066,
"aa_ref": "G",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8725,
"cdna_start": 4164,
"cds_end": null,
"cds_length": 3201,
"cds_start": 33,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011511871.4",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.33G>A",
"hgvs_p": "p.Gly11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510173.1",
"strand": false,
"transcript": "XM_011511871.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5567,
"cdna_start": 854,
"cds_end": null,
"cds_length": 3171,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006712761.2",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712824.1",
"strand": false,
"transcript": "XM_006712761.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 942,
"aa_ref": "G",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 854,
"cds_end": null,
"cds_length": 2829,
"cds_start": 783,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011511872.3",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Gly261Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510174.1",
"strand": false,
"transcript": "XM_011511872.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000652557.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.783G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498617.1",
"strand": false,
"transcript": "ENST00000652557.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8329,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679356.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.783G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506245.1",
"strand": false,
"transcript": "ENST00000679356.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679671.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.896G>A",
"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": "ENST00000679671.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679676.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.672G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505492.1",
"strand": false,
"transcript": "ENST00000679676.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679931.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.783G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505632.1",
"strand": false,
"transcript": "ENST00000679931.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8323,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679967.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.783G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506607.1",
"strand": false,
"transcript": "ENST00000679967.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8344,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000680327.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.783G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506639.1",
"strand": false,
"transcript": "ENST00000680327.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6461,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000680657.1",
"gene_hgnc_id": 25660,
"gene_symbol": "TTC21B",
"hgvs_c": "n.894G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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