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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: 17-8466970-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8466970&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8466970,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030808.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "NM_030808.5",
"protein_id": "NP_110435.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334527.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030808.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000334527.12",
"protein_id": "ENSP00000333982.7",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030808.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334527.12"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.Leu359Val",
"transcript": "ENST00000852241.1",
"protein_id": "ENSP00000522300.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 375,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852241.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000852238.1",
"protein_id": "ENSP00000522297.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852238.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000852239.1",
"protein_id": "ENSP00000522298.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852239.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000852243.1",
"protein_id": "ENSP00000522302.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852243.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000852244.1",
"protein_id": "ENSP00000522303.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852244.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000852246.1",
"protein_id": "ENSP00000522305.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852246.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000852247.1",
"protein_id": "ENSP00000522306.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852247.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000916784.1",
"protein_id": "ENSP00000586843.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916784.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000916785.1",
"protein_id": "ENSP00000586844.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916785.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000953597.1",
"protein_id": "ENSP00000623656.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953597.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000953599.1",
"protein_id": "ENSP00000623658.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953599.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "ENST00000953600.1",
"protein_id": "ENSP00000623659.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953600.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.982C>G",
"hgvs_p": "p.Leu328Val",
"transcript": "ENST00000953598.1",
"protein_id": "ENSP00000623657.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 344,
"cds_start": 982,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953598.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.979C>G",
"hgvs_p": "p.Leu327Val",
"transcript": "ENST00000916783.1",
"protein_id": "ENSP00000586842.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 343,
"cds_start": 979,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916783.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.868C>G",
"hgvs_p": "p.Leu290Val",
"transcript": "ENST00000852245.1",
"protein_id": "ENSP00000522304.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 306,
"cds_start": 868,
"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": "ENST00000852245.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.811C>G",
"hgvs_p": "p.Leu271Val",
"transcript": "ENST00000852242.1",
"protein_id": "ENSP00000522301.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 287,
"cds_start": 811,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852242.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.682C>G",
"hgvs_p": "p.Leu228Val",
"transcript": "ENST00000852240.1",
"protein_id": "ENSP00000522299.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 244,
"cds_start": 682,
"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": "ENST00000852240.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Leu342Val",
"transcript": "XM_017025184.2",
"protein_id": "XP_016880673.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 358,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025184.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.1024C>G",
"hgvs_p": "p.Leu342Val",
"transcript": "XM_047436860.1",
"protein_id": "XP_047292816.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 358,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436860.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Leu329Val",
"transcript": "XM_047436861.1",
"protein_id": "XP_047292817.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 345,
"cds_start": 985,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}