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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: 11-125410275-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125410275&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 125410275,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001382323.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.668T>A",
"hgvs_p": "p.Leu223His",
"transcript": "NM_001382323.2",
"protein_id": "NP_001369252.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 472,
"cds_start": 668,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": "ENST00000298282.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.668T>A",
"hgvs_p": "p.Leu223His",
"transcript": "ENST00000298282.14",
"protein_id": "ENSP00000298282.8",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 472,
"cds_start": 668,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 894,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.461T>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": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.668T>A",
"hgvs_p": "p.Leu223His",
"transcript": "NM_001382324.1",
"protein_id": "NP_001369253.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 472,
"cds_start": 668,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.668T>A",
"hgvs_p": "p.Leu223His",
"transcript": "NM_001382325.1",
"protein_id": "NP_001369254.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 472,
"cds_start": 668,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.668T>A",
"hgvs_p": "p.Leu223His",
"transcript": "NM_001382326.1",
"protein_id": "NP_001369255.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 472,
"cds_start": 668,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.668T>A",
"hgvs_p": "p.Leu223His",
"transcript": "NM_001382327.1",
"protein_id": "NP_001369256.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 472,
"cds_start": 668,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.668T>A",
"hgvs_p": "p.Leu223His",
"transcript": "NM_001382328.1",
"protein_id": "NP_001369257.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 472,
"cds_start": 668,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.656T>A",
"hgvs_p": "p.Leu219His",
"transcript": "NM_001382339.1",
"protein_id": "NP_001369268.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 468,
"cds_start": 656,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.581T>A",
"hgvs_p": "p.Leu194His",
"transcript": "NM_001382329.1",
"protein_id": "NP_001369258.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 443,
"cds_start": 581,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.581T>A",
"hgvs_p": "p.Leu194His",
"transcript": "NM_001382330.1",
"protein_id": "NP_001369259.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 443,
"cds_start": 581,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.581T>A",
"hgvs_p": "p.Leu194His",
"transcript": "NM_001382331.1",
"protein_id": "NP_001369260.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 443,
"cds_start": 581,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 3646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.581T>A",
"hgvs_p": "p.Leu194His",
"transcript": "NM_001382332.1",
"protein_id": "NP_001369261.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 443,
"cds_start": 581,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.581T>A",
"hgvs_p": "p.Leu194His",
"transcript": "NM_001382333.1",
"protein_id": "NP_001369262.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 443,
"cds_start": 581,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "c.476T>A",
"hgvs_p": "p.Leu159His",
"transcript": "NM_001382340.1",
"protein_id": "NP_001369269.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 408,
"cds_start": 476,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 3431,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.849T>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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.770T>A",
"hgvs_p": null,
"transcript": "ENST00000531116.5",
"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": 1673,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.*405T>A",
"hgvs_p": null,
"transcript": "ENST00000532623.5",
"protein_id": "ENSP00000434377.1",
"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": 1654,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.613T>A",
"hgvs_p": null,
"transcript": "NR_168076.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3361,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.894T>A",
"hgvs_p": null,
"transcript": "NR_168078.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3601,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.722T>A",
"hgvs_p": null,
"transcript": "NR_168079.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3372,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.896T>A",
"hgvs_p": null,
"transcript": "NR_168080.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3426,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKNOX2",
"gene_hgnc_id": 16714,
"hgvs_c": "n.945T>A",
"hgvs_p": null,
"transcript": "NR_168081.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
],
"gene_symbol": "PKNOX2",
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3662,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.386,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001382323.2",
"gene_symbol": "PKNOX2",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.668T>A",
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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
}