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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: 11-125397956-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125397956&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 125397956,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001382323.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382323.2",
"protein_id": "NP_001369252.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 472,
"cds_start": 482,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": "ENST00000298282.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "ENST00000298282.14",
"protein_id": "ENSP00000298282.8",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 472,
"cds_start": 482,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": "NM_001382323.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.118G>A",
"hgvs_p": null,
"transcript": "ENST00000526955.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382324.1",
"protein_id": "NP_001369253.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 472,
"cds_start": 482,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382325.1",
"protein_id": "NP_001369254.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 472,
"cds_start": 482,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382326.1",
"protein_id": "NP_001369255.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 472,
"cds_start": 482,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382327.1",
"protein_id": "NP_001369256.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 472,
"cds_start": 482,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382328.1",
"protein_id": "NP_001369257.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 472,
"cds_start": 482,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382339.1",
"protein_id": "NP_001369268.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 468,
"cds_start": 482,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "NM_001382329.1",
"protein_id": "NP_001369258.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 443,
"cds_start": 395,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "NM_001382330.1",
"protein_id": "NP_001369259.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 443,
"cds_start": 395,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "NM_001382331.1",
"protein_id": "NP_001369260.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 443,
"cds_start": 395,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "NM_001382332.1",
"protein_id": "NP_001369261.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 443,
"cds_start": 395,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "NM_001382333.1",
"protein_id": "NP_001369262.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 443,
"cds_start": 395,
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"cdna_start": 922,
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"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.290G>A",
"hgvs_p": "p.Arg97His",
"transcript": "NM_001382340.1",
"protein_id": "NP_001369269.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 408,
"cds_start": 290,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382341.1",
"protein_id": "NP_001369270.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 396,
"cds_start": 482,
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"cdna_start": 708,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382334.1",
"protein_id": "NP_001369263.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 356,
"cds_start": 482,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "NM_001382335.1",
"protein_id": "NP_001369264.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 356,
"cds_start": 482,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "NM_001382336.1",
"protein_id": "NP_001369265.1",
"transcript_support_level": null,
"aa_start": 132,
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"aa_length": 327,
"cds_start": 395,
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"cdna_start": 599,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "NM_001382337.1",
"protein_id": "NP_001369266.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 327,
"cds_start": 395,
"cds_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "NM_001382338.1",
"protein_id": "NP_001369267.1",
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"aa_start": 132,
"aa_end": null,
"aa_length": 327,
"cds_start": 395,
"cds_end": null,
"cds_length": 984,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.663G>A",
"hgvs_p": null,
"transcript": "ENST00000530517.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.584G>A",
"hgvs_p": null,
"transcript": "ENST00000531116.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}