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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-5893521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=5893521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NLGN4X",
"hgnc_id": 14287,
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"inheritance_mode": "XL",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_020742.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9913,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8907448649406433,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_181332.3",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381095.8",
"protein_coding": true,
"protein_id": "NP_851849.1",
"strand": false,
"transcript": "NM_181332.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000381095.8",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181332.3",
"protein_coding": true,
"protein_id": "ENSP00000370485.3",
"strand": false,
"transcript": "ENST00000381095.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000538097.6",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1807C>T",
"hgvs_p": "p.Arg603Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439203.3",
"strand": false,
"transcript": "ENST00000538097.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5454,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000275857.10",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000275857.6",
"strand": false,
"transcript": "ENST00000275857.10",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6165,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282145.2",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269074.1",
"strand": false,
"transcript": "NM_001282145.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5739,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282146.2",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269075.1",
"strand": false,
"transcript": "NM_001282146.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5753,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001441322.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428251.1",
"strand": false,
"transcript": "NM_001441322.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5601,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001441323.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428252.1",
"strand": false,
"transcript": "NM_001441323.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5926,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441324.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428253.1",
"strand": false,
"transcript": "NM_001441324.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5931,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441325.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428254.1",
"strand": false,
"transcript": "NM_001441325.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5690,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_020742.4",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065793.1",
"strand": false,
"transcript": "NM_020742.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000381092.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370482.1",
"strand": false,
"transcript": "ENST00000381092.1",
"transcript_support_level": 2
},
{
"aa_alt": "W",
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"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5865,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000381093.6",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370483.3",
"strand": false,
"transcript": "ENST00000381093.6",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5678,
"cdna_start": 2385,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899710.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569769.1",
"strand": false,
"transcript": "ENST00000899710.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5622,
"cdna_start": 2329,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899711.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569770.1",
"strand": false,
"transcript": "ENST00000899711.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899712.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569771.1",
"strand": false,
"transcript": "ENST00000899712.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5435,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899714.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569773.1",
"strand": false,
"transcript": "ENST00000899714.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5668,
"cdna_start": 2176,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915395.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585454.1",
"strand": false,
"transcript": "ENST00000915395.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 816,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5475,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915396.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585455.1",
"strand": false,
"transcript": "ENST00000915396.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1561,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000899713.1",
"gene_hgnc_id": 14287,
"gene_symbol": "NLGN4X",
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Arg521Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569772.1",
"strand": false,
"transcript": "ENST00000899713.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5918,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1807,
"consequences": [
"missense_variant"
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