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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: 1-161231200-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161231200&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161231200,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001077482.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.728T>C",
"hgvs_p": "p.Phe243Ser",
"transcript": "NM_005122.5",
"protein_id": "NP_005113.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 348,
"cds_start": 728,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367983.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005122.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.728T>C",
"hgvs_p": "p.Phe243Ser",
"transcript": "ENST00000367983.9",
"protein_id": "ENSP00000356962.5",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 348,
"cds_start": 728,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005122.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367983.9"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "ENST00000367979.6",
"protein_id": "ENSP00000356958.2",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 357,
"cds_start": 740,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367979.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "ENST00000367982.8",
"protein_id": "ENSP00000356961.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 352,
"cds_start": 740,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367982.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.728T>C",
"hgvs_p": "p.Phe243Ser",
"transcript": "ENST00000428574.6",
"protein_id": "ENSP00000412672.2",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 340,
"cds_start": 728,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428574.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Phe247Ser",
"transcript": "ENST00000442691.6",
"protein_id": "ENSP00000406493.2",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 339,
"cds_start": 740,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442691.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Phe214Ser",
"transcript": "ENST00000367981.7",
"protein_id": "ENSP00000356960.3",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 324,
"cds_start": 641,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367981.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Phe214Ser",
"transcript": "ENST00000511676.5",
"protein_id": "ENSP00000427175.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 319,
"cds_start": 641,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511676.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.653T>C",
"hgvs_p": "p.Phe218Ser",
"transcript": "ENST00000412844.6",
"protein_id": "ENSP00000399361.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 315,
"cds_start": 653,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412844.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Phe214Ser",
"transcript": "ENST00000508740.5",
"protein_id": "ENSP00000423666.1",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 311,
"cds_start": 641,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508740.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Phe214Ser",
"transcript": "ENST00000437437.6",
"protein_id": "ENSP00000407446.2",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 306,
"cds_start": 641,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437437.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.503T>C",
"hgvs_p": "p.Phe168Ser",
"transcript": "ENST00000515621.5",
"protein_id": "ENSP00000421588.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 273,
"cds_start": 503,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515621.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.694+129T>C",
"hgvs_p": null,
"transcript": "ENST00000367985.7",
"protein_id": "ENSP00000356965.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367985.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.694+129T>C",
"hgvs_p": null,
"transcript": "ENST00000367984.8",
"protein_id": "ENSP00000356963.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367984.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.694+129T>C",
"hgvs_p": null,
"transcript": "ENST00000505005.5",
"protein_id": "ENSP00000424934.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505005.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.607+129T>C",
"hgvs_p": null,
"transcript": "ENST00000504010.5",
"protein_id": "ENSP00000424345.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.607+129T>C",
"hgvs_p": null,
"transcript": "ENST00000512372.5",
"protein_id": "ENSP00000425417.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512372.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.384+129T>C",
"hgvs_p": null,
"transcript": "ENST00000502985.5",
"protein_id": "ENSP00000421374.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502985.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.384+129T>C",
"hgvs_p": null,
"transcript": "ENST00000511944.5",
"protein_id": "ENSP00000426292.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511944.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.297+129T>C",
"hgvs_p": null,
"transcript": "ENST00000508387.5",
"protein_id": "ENSP00000422982.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508387.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "c.297+129T>C",
"hgvs_p": null,
"transcript": "ENST00000511748.5",
"protein_id": "ENSP00000427600.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511748.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1I3",
"gene_hgnc_id": 7969,
"hgvs_c": "n.596T>C",
"hgvs_p": null,
"transcript": "ENST00000505944.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505944.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"splice_prediction_selected": "Benign",
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{
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"PP3"
],
"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 3,
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Kleefstra syndrome 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Kleefstra syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}