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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: 19-48913556-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48913556&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48913556,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006184.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "NM_006184.6",
"protein_id": "NP_006175.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 461,
"cds_start": 749,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405315.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006184.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000405315.9",
"protein_id": "ENSP00000385923.3",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 461,
"cds_start": 749,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006184.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405315.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Ile282Thr",
"transcript": "ENST00000878482.1",
"protein_id": "ENSP00000548541.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 493,
"cds_start": 845,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878482.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Ile282Thr",
"transcript": "ENST00000941802.1",
"protein_id": "ENSP00000611861.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 493,
"cds_start": 845,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941802.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000878486.1",
"protein_id": "ENSP00000548545.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 487,
"cds_start": 749,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878486.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.824T>C",
"hgvs_p": "p.Ile275Thr",
"transcript": "ENST00000924621.1",
"protein_id": "ENSP00000594680.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 486,
"cds_start": 824,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924621.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.815T>C",
"hgvs_p": "p.Ile272Thr",
"transcript": "ENST00000941798.1",
"protein_id": "ENSP00000611857.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 483,
"cds_start": 815,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941798.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Ile266Thr",
"transcript": "ENST00000878484.1",
"protein_id": "ENSP00000548543.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 477,
"cds_start": 797,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878484.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000941793.1",
"protein_id": "ENSP00000611852.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 477,
"cds_start": 749,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941793.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.791T>C",
"hgvs_p": "p.Ile264Thr",
"transcript": "ENST00000924620.1",
"protein_id": "ENSP00000594679.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 475,
"cds_start": 791,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924620.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Ile260Thr",
"transcript": "ENST00000706760.1",
"protein_id": "ENSP00000516537.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 471,
"cds_start": 779,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706760.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000407032.5",
"protein_id": "ENSP00000385211.1",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 461,
"cds_start": 749,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407032.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000411700.6",
"protein_id": "ENSP00000410519.2",
"transcript_support_level": 4,
"aa_start": 250,
"aa_end": null,
"aa_length": 461,
"cds_start": 749,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411700.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000451312.6",
"protein_id": "ENSP00000397201.2",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 461,
"cds_start": 749,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451312.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000706746.1",
"protein_id": "ENSP00000516525.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 461,
"cds_start": 749,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706746.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000878481.1",
"protein_id": "ENSP00000548540.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 461,
"cds_start": 749,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878481.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000941791.1",
"protein_id": "ENSP00000611850.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 459,
"cds_start": 749,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941791.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Ile248Thr",
"transcript": "ENST00000941792.1",
"protein_id": "ENSP00000611851.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 459,
"cds_start": 743,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941792.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.740T>C",
"hgvs_p": "p.Ile247Thr",
"transcript": "ENST00000941797.1",
"protein_id": "ENSP00000611856.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 458,
"cds_start": 740,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941797.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000878478.1",
"protein_id": "ENSP00000548537.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 457,
"cds_start": 749,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878478.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000706749.1",
"protein_id": "ENSP00000516527.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 455,
"cds_start": 749,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706749.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NUCB1",
"gene_hgnc_id": 8043,
"hgvs_c": "c.749T>C",
"hgvs_p": "p.Ile250Thr",
"transcript": "ENST00000941801.1",
"protein_id": "ENSP00000611860.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 453,
"cds_start": 749,
"cds_end": null,
"cds_length": 1362,
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"splice_prediction_selected": "Benign",
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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
}