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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: X-134781844-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=134781844&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 134781844,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001387468.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Ala212Ala",
"transcript": "NM_001387468.1",
"protein_id": "NP_001374397.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 267,
"cds_start": 636,
"cds_end": null,
"cds_length": 804,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 4377,
"mane_select": "ENST00000343004.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Ala212Ala",
"transcript": "ENST00000343004.10",
"protein_id": "ENSP00000339207.6",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 267,
"cds_start": 636,
"cds_end": null,
"cds_length": 804,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 4377,
"mane_select": "NM_001387468.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Ala192Ala",
"transcript": "ENST00000370790.5",
"protein_id": "ENSP00000359826.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 247,
"cds_start": 576,
"cds_end": null,
"cds_length": 744,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Ala216Ala",
"transcript": "NM_001331088.1",
"protein_id": "NP_001318017.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 271,
"cds_start": 648,
"cds_end": null,
"cds_length": 816,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Ala215Ala",
"transcript": "NM_001331089.1",
"protein_id": "NP_001318018.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 270,
"cds_start": 645,
"cds_end": null,
"cds_length": 813,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Ala212Ala",
"transcript": "ENST00000611027.2",
"protein_id": "ENSP00000479150.2",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 267,
"cds_start": 636,
"cds_end": null,
"cds_length": 804,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.633G>A",
"hgvs_p": "p.Ala211Ala",
"transcript": "NM_001170756.1",
"protein_id": "NP_001164227.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 266,
"cds_start": 633,
"cds_end": null,
"cds_length": 801,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.633G>A",
"hgvs_p": "p.Ala211Ala",
"transcript": "ENST00000493333.5",
"protein_id": "ENSP00000487221.1",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 266,
"cds_start": 633,
"cds_end": null,
"cds_length": 801,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Ala193Ala",
"transcript": "NM_145284.5",
"protein_id": "NP_660327.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 248,
"cds_start": 579,
"cds_end": null,
"cds_length": 747,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 3470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Ala193Ala",
"transcript": "ENST00000486347.5",
"protein_id": "ENSP00000419592.1",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 248,
"cds_start": 579,
"cds_end": null,
"cds_length": 747,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Ala192Ala",
"transcript": "NM_001166599.3",
"protein_id": "NP_001160071.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 247,
"cds_start": 576,
"cds_end": null,
"cds_length": 744,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Ala216Ala",
"transcript": "NM_001387469.1",
"protein_id": "NP_001374398.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 246,
"cds_start": 648,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Ala212Ala",
"transcript": "NM_001331092.1",
"protein_id": "NP_001318021.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 242,
"cds_start": 636,
"cds_end": null,
"cds_length": 729,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.633G>A",
"hgvs_p": "p.Ala211Ala",
"transcript": "NM_001166600.3",
"protein_id": "NP_001160072.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 241,
"cds_start": 633,
"cds_end": null,
"cds_length": 726,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.633G>A",
"hgvs_p": "p.Ala211Ala",
"transcript": "ENST00000298090.10",
"protein_id": "ENSP00000298090.6",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 241,
"cds_start": 633,
"cds_end": null,
"cds_length": 726,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Ala197Ala",
"transcript": "NM_001331090.1",
"protein_id": "NP_001318019.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 227,
"cds_start": 591,
"cds_end": null,
"cds_length": 684,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.588G>A",
"hgvs_p": "p.Ala196Ala",
"transcript": "NM_001331091.1",
"protein_id": "NP_001318020.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 226,
"cds_start": 588,
"cds_end": null,
"cds_length": 681,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Ala193Ala",
"transcript": "NM_001331094.1",
"protein_id": "NP_001318023.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 223,
"cds_start": 579,
"cds_end": null,
"cds_length": 672,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Ala192Ala",
"transcript": "NM_001331093.1",
"protein_id": "NP_001318022.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 222,
"cds_start": 576,
"cds_end": null,
"cds_length": 669,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Ala159Ala",
"transcript": "NM_001170757.2",
"protein_id": "NP_001164228.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 189,
"cds_start": 477,
"cds_end": null,
"cds_length": 570,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.648G>A",
"hgvs_p": "p.Ala216Ala",
"transcript": "XM_011531282.3",
"protein_id": "XP_011529584.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 293,
"cds_start": 648,
"cds_end": null,
"cds_length": 882,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Ala215Ala",
"transcript": "XM_011531283.3",
"protein_id": "XP_011529585.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 292,
"cds_start": 645,
"cds_end": null,
"cds_length": 879,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABIR2",
"gene_hgnc_id": 30490,
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Ala212Ala",
"transcript": "XM_011531284.3",
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"BP7",
"BS2"
],
"verdict": "Benign",
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}