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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: X-71147978-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71147978&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71147978,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_181303.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "NM_181303.2",
"protein_id": "NP_851820.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 848,
"cds_start": 229,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358741.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181303.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000358741.4",
"protein_id": "ENSP00000351591.4",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 848,
"cds_start": 229,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181303.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358741.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000374051.7",
"protein_id": "ENSP00000363163.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 828,
"cds_start": 229,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374051.7"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000395855.7",
"protein_id": "ENSP00000379196.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 528,
"cds_start": 229,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395855.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.468C>G",
"hgvs_p": null,
"transcript": "ENST00000476589.2",
"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": "ENST00000476589.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.229C>G",
"hgvs_p": null,
"transcript": "ENST00000685718.1",
"protein_id": "ENSP00000510514.1",
"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": "ENST00000685718.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000904687.1",
"protein_id": "ENSP00000574746.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 848,
"cds_start": 229,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904687.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000957026.1",
"protein_id": "ENSP00000627085.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 848,
"cds_start": 229,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957026.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "NM_018977.4",
"protein_id": "NP_061850.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 828,
"cds_start": 229,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018977.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000939110.1",
"protein_id": "ENSP00000609169.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 828,
"cds_start": 229,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939110.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000939109.1",
"protein_id": "ENSP00000609168.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 817,
"cds_start": 229,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939109.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "NM_001166660.2",
"protein_id": "NP_001160132.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 808,
"cds_start": 229,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166660.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000536169.6",
"protein_id": "ENSP00000445298.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 808,
"cds_start": 229,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536169.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000939108.1",
"protein_id": "ENSP00000609167.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 808,
"cds_start": 229,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939108.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000687470.1",
"protein_id": "ENSP00000508881.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 793,
"cds_start": 229,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687470.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000689857.1",
"protein_id": "ENSP00000510719.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 758,
"cds_start": 229,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689857.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000689968.1",
"protein_id": "ENSP00000510150.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 735,
"cds_start": 229,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689968.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000692905.1",
"protein_id": "ENSP00000510435.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 548,
"cds_start": 229,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692905.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000687568.1",
"protein_id": "ENSP00000509635.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 304,
"cds_start": 229,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687568.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "XM_047442185.1",
"protein_id": "XP_047298141.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 848,
"cds_start": 229,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442185.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "XM_017029597.3",
"protein_id": "XP_016885086.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 580,
"cds_start": 229,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029597.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.-38-85C>G",
"hgvs_p": null,
"transcript": "NM_001437941.1",
"protein_id": "NP_001424870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": null,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437941.1"
},
{
"aa_ref": null,
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],
"verdict": "Uncertain_significance",
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{
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{
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}
],
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"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}