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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: 11-17330136-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17330136&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17330136,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001352661.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "NM_005013.4",
"protein_id": "NP_005004.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000529010.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005013.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000529010.6",
"protein_id": "ENSP00000436455.1",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005013.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529010.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "n.*324C>A",
"hgvs_p": null,
"transcript": "ENST00000646648.1",
"protein_id": "ENSP00000495210.1",
"transcript_support_level": null,
"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": "ENST00000646648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "n.*324C>A",
"hgvs_p": null,
"transcript": "ENST00000646648.1",
"protein_id": "ENSP00000495210.1",
"transcript_support_level": null,
"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": "ENST00000646648.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Gln356Lys",
"transcript": "ENST00000909741.1",
"protein_id": "ENSP00000579800.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 438,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909741.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Gln356Lys",
"transcript": "ENST00000935684.1",
"protein_id": "ENSP00000605743.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 438,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935684.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1042C>A",
"hgvs_p": "p.Gln348Lys",
"transcript": "ENST00000909731.1",
"protein_id": "ENSP00000579790.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 430,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909731.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1015C>A",
"hgvs_p": "p.Gln339Lys",
"transcript": "NM_001352661.2",
"protein_id": "NP_001339590.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 421,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352661.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1015C>A",
"hgvs_p": "p.Gln339Lys",
"transcript": "NM_001352663.2",
"protein_id": "NP_001339592.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 421,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352663.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "NM_001352664.2",
"protein_id": "NP_001339593.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352664.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "NM_001352668.2",
"protein_id": "NP_001339597.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352668.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "NM_001352669.2",
"protein_id": "NP_001339598.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352669.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "NM_001352670.2",
"protein_id": "NP_001339599.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352670.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "NM_001352672.2",
"protein_id": "NP_001339601.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352672.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000323688.10",
"protein_id": "ENSP00000320168.6",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323688.10"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000909713.1",
"protein_id": "ENSP00000579772.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909713.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000909714.1",
"protein_id": "ENSP00000579773.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909714.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000909715.1",
"protein_id": "ENSP00000579774.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909715.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000909716.1",
"protein_id": "ENSP00000579775.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909716.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000909717.1",
"protein_id": "ENSP00000579776.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909717.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000909718.1",
"protein_id": "ENSP00000579777.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909718.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Gln338Lys",
"transcript": "ENST00000909719.1",
"protein_id": "ENSP00000579778.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 420,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1263,
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{
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}