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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-71169399-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71169399&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71169399,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000358741.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1849C>T",
"hgvs_p": "p.Arg617Trp",
"transcript": "NM_181303.2",
"protein_id": "NP_851820.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 848,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": "ENST00000358741.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1849C>T",
"hgvs_p": "p.Arg617Trp",
"transcript": "ENST00000358741.4",
"protein_id": "ENSP00000351591.4",
"transcript_support_level": 5,
"aa_start": 617,
"aa_end": null,
"aa_length": 848,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": "NM_181303.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Arg597Trp",
"transcript": "ENST00000374051.7",
"protein_id": "ENSP00000363163.3",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 828,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.2028C>T",
"hgvs_p": null,
"transcript": "ENST00000476589.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.*1196C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.*1196C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Arg597Trp",
"transcript": "NM_018977.4",
"protein_id": "NP_061850.2",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 828,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1729C>T",
"hgvs_p": "p.Arg577Trp",
"transcript": "NM_001166660.2",
"protein_id": "NP_001160132.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 808,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1729C>T",
"hgvs_p": "p.Arg577Trp",
"transcript": "ENST00000536169.6",
"protein_id": "ENSP00000445298.1",
"transcript_support_level": 5,
"aa_start": 577,
"aa_end": null,
"aa_length": 808,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1849C>T",
"hgvs_p": "p.Arg617Trp",
"transcript": "ENST00000687470.1",
"protein_id": "ENSP00000508881.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 793,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 6361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1579C>T",
"hgvs_p": "p.Arg527Trp",
"transcript": "ENST00000689857.1",
"protein_id": "ENSP00000510719.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 758,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500Trp",
"transcript": "NM_001437941.1",
"protein_id": "NP_001424870.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 731,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500Trp",
"transcript": "NM_001438296.1",
"protein_id": "NP_001425225.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 731,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500Trp",
"transcript": "ENST00000687220.1",
"protein_id": "ENSP00000509531.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 731,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Arg500Trp",
"transcript": "ENST00000688566.1",
"protein_id": "ENSP00000509202.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 731,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Arg480Trp",
"transcript": "NM_001321276.2",
"protein_id": "NP_001308205.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 711,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Arg480Trp",
"transcript": "NM_001438298.1",
"protein_id": "NP_001425227.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 711,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Arg480Trp",
"transcript": "ENST00000690133.1",
"protein_id": "ENSP00000508912.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 711,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.Arg480Trp",
"transcript": "ENST00000692338.1",
"protein_id": "ENSP00000508700.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 711,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1849C>T",
"hgvs_p": "p.Arg617Trp",
"transcript": "XM_047442185.1",
"protein_id": "XP_047298141.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 848,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Arg568Trp",
"transcript": "XM_006724662.5",
"protein_id": "XP_006724725.2",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 799,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.3524C>T",
"hgvs_p": null,
"transcript": "ENST00000685950.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NLGN3",
"gene_hgnc_id": 14289,
"hgvs_c": "n.2832C>T",
"hgvs_p": null,
"transcript": "ENST00000688950.1",
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Intellectual disability",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}