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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: 9-84948545-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=84948545&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 84948545,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000277120.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.Ile616Ile",
"transcript": "NM_006180.6",
"protein_id": "NP_006171.2",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 838,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 8666,
"mane_select": "ENST00000277120.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.Ile616Ile",
"transcript": "ENST00000277120.8",
"protein_id": "ENSP00000277120.3",
"transcript_support_level": 1,
"aa_start": 616,
"aa_end": null,
"aa_length": 838,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 8666,
"mane_select": "NM_006180.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1764C>A",
"hgvs_p": "p.Ile588Ile",
"transcript": "ENST00000323115.11",
"protein_id": "ENSP00000314586.5",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 810,
"cds_start": 1764,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 8723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.Ile616Ile",
"transcript": "ENST00000686324.1",
"protein_id": "ENSP00000510134.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 838,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2513,
"cdna_end": null,
"cdna_length": 8795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "NM_001018064.3",
"protein_id": "NP_001018074.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 822,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 8647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "NM_001369532.1",
"protein_id": "NP_001356461.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 822,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 8931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "NM_001369533.1",
"protein_id": "NP_001356462.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 822,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 8722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "ENST00000376213.6",
"protein_id": "ENSP00000365386.1",
"transcript_support_level": 5,
"aa_start": 600,
"aa_end": null,
"aa_length": 822,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 8693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "ENST00000686259.1",
"protein_id": "ENSP00000509743.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 822,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 8988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "ENST00000686496.1",
"protein_id": "ENSP00000510060.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 822,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 9433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "ENST00000691788.1",
"protein_id": "ENSP00000509401.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 822,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 8747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "ENST00000692181.1",
"protein_id": "ENSP00000510619.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 822,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 9200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1764C>A",
"hgvs_p": "p.Ile588Ile",
"transcript": "NM_001369534.1",
"protein_id": "NP_001356463.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 810,
"cds_start": 1764,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 8582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1800C>A",
"hgvs_p": "p.Ile600Ile",
"transcript": "ENST00000687386.1",
"protein_id": "ENSP00000508723.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 776,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1380C>A",
"hgvs_p": "p.Ile460Ile",
"transcript": "NM_001369536.1",
"protein_id": "NP_001356465.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 682,
"cds_start": 1380,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 8003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1380C>A",
"hgvs_p": "p.Ile460Ile",
"transcript": "ENST00000692473.1",
"protein_id": "ENSP00000509020.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 682,
"cds_start": 1380,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 7980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1332C>A",
"hgvs_p": "p.Ile444Ile",
"transcript": "NM_001369535.1",
"protein_id": "NP_001356464.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 666,
"cds_start": 1332,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 7955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1332C>A",
"hgvs_p": "p.Ile444Ile",
"transcript": "ENST00000689301.1",
"protein_id": "ENSP00000510766.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 666,
"cds_start": 1332,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.Ile616Ile",
"transcript": "XM_005252001.4",
"protein_id": "XP_005252058.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 838,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 8892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.Ile616Ile",
"transcript": "XM_005252003.4",
"protein_id": "XP_005252060.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 838,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2573,
"cdna_end": null,
"cdna_length": 8859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.Ile616Ile",
"transcript": "XM_005252004.3",
"protein_id": "XP_005252061.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 838,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 8770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NTRK2",
"gene_hgnc_id": 8032,
"hgvs_c": "c.1848C>A",
"hgvs_p": "p.Ile616Ile",
"transcript": "XM_017014751.3",
"protein_id": "XP_016870240.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 838,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 9434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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],
"gene_symbol": "NTRK2",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
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"acmg_score": -19,
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"acmg_by_gene": [
{
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"criteria": [
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"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}