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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: 3-9672734-ACT-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9672734&ref=ACT&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTMR14",
"hgnc_id": 26190,
"hgvs_c": "c.796_798delACTinsGCG",
"hgvs_p": "p.Thr266Ala",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001400518.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 650,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1953,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077525.3",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.727_729delACTinsGCG",
"hgvs_p": "p.Thr243Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296003.9",
"protein_coding": true,
"protein_id": "NP_001070993.1",
"strand": true,
"transcript": "NM_001077525.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 650,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1953,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296003.9",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.727_729delACTinsGCG",
"hgvs_p": "p.Thr243Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077525.3",
"protein_coding": true,
"protein_id": "ENSP00000296003.5",
"strand": true,
"transcript": "ENST00000296003.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 598,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1797,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353332.9",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.727_729delACTinsGCG",
"hgvs_p": "p.Thr243Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323462.8",
"strand": true,
"transcript": "ENST00000353332.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 538,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1617,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000351233.9",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.727_729delACTinsGCG",
"hgvs_p": "p.Thr243Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334070.7",
"strand": true,
"transcript": "ENST00000351233.9",
"transcript_support_level": 1
},
{
"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": 1746,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000414996.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "n.*84_*86delACTinsGCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392935.1",
"strand": true,
"transcript": "ENST00000414996.1",
"transcript_support_level": 1
},
{
"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": 1746,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000414996.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "n.*84_*86delACTinsGCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392935.1",
"strand": true,
"transcript": "ENST00000414996.1",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 673,
"aa_ref": "T",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 2022,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400518.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.796_798delACTinsGCG",
"hgvs_p": "p.Thr266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387447.1",
"strand": true,
"transcript": "NM_001400518.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 649,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1950,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400519.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.724_726delACTinsGCG",
"hgvs_p": "p.Thr242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387448.1",
"strand": true,
"transcript": "NM_001400519.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 649,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1950,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863569.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.724_726delACTinsGCG",
"hgvs_p": "p.Thr242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533628.1",
"strand": true,
"transcript": "ENST00000863569.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 625,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1878,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400520.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.727_729delACTinsGCG",
"hgvs_p": "p.Thr243Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387449.1",
"strand": true,
"transcript": "NM_001400520.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 624,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1875,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863571.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.724_726delACTinsGCG",
"hgvs_p": "p.Thr242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533630.1",
"strand": true,
"transcript": "ENST00000863571.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 621,
"aa_ref": "T",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2498,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1866,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400521.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.796_798delACTinsGCG",
"hgvs_p": "p.Thr266Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387450.1",
"strand": true,
"transcript": "NM_001400521.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 598,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1797,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077526.3",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.727_729delACTinsGCG",
"hgvs_p": "p.Thr243Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070994.1",
"strand": true,
"transcript": "NM_001077526.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 597,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1794,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400522.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.724_726delACTinsGCG",
"hgvs_p": "p.Thr242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387451.1",
"strand": true,
"transcript": "NM_001400522.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 597,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1794,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863570.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.724_726delACTinsGCG",
"hgvs_p": "p.Thr242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533629.1",
"strand": true,
"transcript": "ENST00000863570.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 595,
"aa_ref": "T",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 827,
"cds_end": null,
"cds_length": 1788,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936842.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.718_720delACTinsGCG",
"hgvs_p": "p.Thr240Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606901.1",
"strand": true,
"transcript": "ENST00000936842.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2257,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1764,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936843.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.694_696delACTinsGCG",
"hgvs_p": "p.Thr232Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606902.1",
"strand": true,
"transcript": "ENST00000936843.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 573,
"aa_ref": "T",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1722,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400523.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.727_729delACTinsGCG",
"hgvs_p": "p.Thr243Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387452.1",
"strand": true,
"transcript": "NM_001400523.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 572,
"aa_ref": "T",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1719,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958417.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.724_726delACTinsGCG",
"hgvs_p": "p.Thr242Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628476.1",
"strand": true,
"transcript": "ENST00000958417.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 568,
"aa_ref": "T",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2206,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1707,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400524.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
"hgvs_c": "c.481_483delACTinsGCG",
"hgvs_p": "p.Thr161Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387453.1",
"strand": true,
"transcript": "NM_001400524.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 568,
"aa_ref": "T",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1707,
"cds_start": 481,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863573.1",
"gene_hgnc_id": 26190,
"gene_symbol": "MTMR14",
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