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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: 16-10761772-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=10761772&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 10761772,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002484.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.733T>A",
"hgvs_p": "p.Phe245Ile",
"transcript": "NM_002484.4",
"protein_id": "NP_002475.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 320,
"cds_start": 733,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283027.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002484.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.733T>A",
"hgvs_p": "p.Phe245Ile",
"transcript": "ENST00000283027.10",
"protein_id": "ENSP00000283027.5",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 320,
"cds_start": 733,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002484.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283027.10"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.700T>A",
"hgvs_p": "p.Phe234Ile",
"transcript": "ENST00000433392.6",
"protein_id": "ENSP00000409654.2",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 309,
"cds_start": 700,
"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": "ENST00000433392.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "n.756T>A",
"hgvs_p": null,
"transcript": "ENST00000571790.5",
"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": "pseudogene",
"feature": "ENST00000571790.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "n.629T>A",
"hgvs_p": null,
"transcript": "ENST00000574137.1",
"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": "ENST00000574137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.*207-204A>T",
"hgvs_p": null,
"transcript": "ENST00000456096.6",
"protein_id": "ENSP00000411972.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000456096.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.925-204A>T",
"hgvs_p": null,
"transcript": "ENST00000572980.5",
"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": "pseudogene",
"feature": "ENST00000572980.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.927-204A>T",
"hgvs_p": null,
"transcript": "ENST00000573857.5",
"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": "pseudogene",
"feature": "ENST00000573857.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TVP23A",
"gene_hgnc_id": 20398,
"hgvs_c": "n.*207-204A>T",
"hgvs_p": null,
"transcript": "ENST00000575135.5",
"protein_id": "ENSP00000460567.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000575135.5"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.730T>A",
"hgvs_p": "p.Phe244Ile",
"transcript": "ENST00000851531.1",
"protein_id": "ENSP00000521590.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 319,
"cds_start": 730,
"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": "ENST00000851531.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.727T>A",
"hgvs_p": "p.Phe243Ile",
"transcript": "ENST00000851530.1",
"protein_id": "ENSP00000521589.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 318,
"cds_start": 727,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851530.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.733T>A",
"hgvs_p": "p.Phe245Ile",
"transcript": "ENST00000924648.1",
"protein_id": "ENSP00000594707.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 317,
"cds_start": 733,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924648.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.700T>A",
"hgvs_p": "p.Phe234Ile",
"transcript": "NM_001278506.2",
"protein_id": "NP_001265435.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 309,
"cds_start": 700,
"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": "NM_001278506.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.694T>A",
"hgvs_p": "p.Phe232Ile",
"transcript": "ENST00000924645.1",
"protein_id": "ENSP00000594704.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 307,
"cds_start": 694,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924645.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.700T>A",
"hgvs_p": "p.Phe234Ile",
"transcript": "ENST00000924650.1",
"protein_id": "ENSP00000594709.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 306,
"cds_start": 700,
"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": "ENST00000924650.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.670T>A",
"hgvs_p": "p.Phe224Ile",
"transcript": "ENST00000851532.1",
"protein_id": "ENSP00000521591.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 299,
"cds_start": 670,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851532.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.658T>A",
"hgvs_p": "p.Phe220Ile",
"transcript": "ENST00000960379.1",
"protein_id": "ENSP00000630438.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 295,
"cds_start": 658,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960379.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.733T>A",
"hgvs_p": "p.Phe245Ile",
"transcript": "NM_001323595.2",
"protein_id": "NP_001310524.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 292,
"cds_start": 733,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323595.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.631T>A",
"hgvs_p": "p.Phe211Ile",
"transcript": "ENST00000924644.1",
"protein_id": "ENSP00000594703.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 286,
"cds_start": 631,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924644.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.628T>A",
"hgvs_p": "p.Phe210Ile",
"transcript": "ENST00000924647.1",
"protein_id": "ENSP00000594706.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 285,
"cds_start": 628,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924647.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.664T>A",
"hgvs_p": "p.Phe222Ile",
"transcript": "NM_001323594.2",
"protein_id": "NP_001310523.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 269,
"cds_start": 664,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323594.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBP1",
"gene_hgnc_id": 8041,
"hgvs_c": "c.586T>A",
"hgvs_p": "p.Phe196Ile",
"transcript": "NM_001323597.1",
"protein_id": "NP_001310526.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 244,
"cds_start": 586,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323597.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
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{
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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
}