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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-38401318-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=38401318&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OTC",
"hgnc_id": 8512,
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"inheritance_mode": "XL",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_000531.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000250349",
"hgnc_id": null,
"hgvs_c": "c.172-264803A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000465127.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2",
"acmg_score": 5,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1585,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6094280481338501,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 354,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 523,
"cds_end": null,
"cds_length": 1065,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000531.6",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000039007.5",
"protein_coding": true,
"protein_id": "NP_000522.3",
"strand": true,
"transcript": "NM_000531.6",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 354,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 523,
"cds_end": null,
"cds_length": 1065,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000039007.5",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000531.6",
"protein_coding": true,
"protein_id": "ENSP00000039007.4",
"strand": true,
"transcript": "ENST00000039007.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 279,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": null,
"cds_end": null,
"cds_length": 840,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000465127.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000250349",
"hgvs_c": "c.172-264803A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417050.1",
"strand": true,
"transcript": "ENST00000465127.1",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 354,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1065,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001407092.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394021.1",
"strand": true,
"transcript": "NM_001407092.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 354,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1065,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713758.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519059.1",
"strand": true,
"transcript": "ENST00000713758.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 354,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1065,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909233.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579292.1",
"strand": true,
"transcript": "ENST00000909233.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 354,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 553,
"cds_end": null,
"cds_length": 1065,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909234.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579293.1",
"strand": true,
"transcript": "ENST00000909234.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 350,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1053,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909238.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579297.1",
"strand": true,
"transcript": "ENST00000909238.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 346,
"aa_ref": "K",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1494,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1041,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909240.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.406A>G",
"hgvs_p": "p.Lys136Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579299.1",
"strand": true,
"transcript": "ENST00000909240.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 336,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1543,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1011,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909239.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579298.1",
"strand": true,
"transcript": "ENST00000909239.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 336,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1011,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909241.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579300.1",
"strand": true,
"transcript": "ENST00000909241.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 313,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 597,
"cds_end": null,
"cds_length": 942,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909236.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579295.1",
"strand": true,
"transcript": "ENST00000909236.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 308,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 600,
"cds_end": null,
"cds_length": 927,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909235.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579294.1",
"strand": true,
"transcript": "ENST00000909235.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 299,
"aa_ref": "K",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2672,
"cdna_start": 547,
"cds_end": null,
"cds_length": 900,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000713759.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.265A>G",
"hgvs_p": "p.Lys89Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519060.1",
"strand": true,
"transcript": "ENST00000713759.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 245,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 592,
"cds_end": null,
"cds_length": 738,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909237.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579296.1",
"strand": true,
"transcript": "ENST00000909237.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 311,
"aa_ref": "K",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1047,
"cdna_start": 523,
"cds_end": null,
"cds_length": 936,
"cds_start": 430,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017029556.2",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "c.430A>G",
"hgvs_p": "p.Lys144Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885045.1",
"strand": true,
"transcript": "XM_017029556.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000488812.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "n.467A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000488812.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1304,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000643344.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "n.*180A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496606.1",
"strand": true,
"transcript": "ENST00000643344.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713760.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "n.*192A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519061.1",
"strand": true,
"transcript": "ENST00000713760.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1304,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000643344.1",
"gene_hgnc_id": 8512,
"gene_symbol": "OTC",
"hgvs_c": "n.*180A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496606.1",
"strand": true,
"transcript": "ENST00000643344.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713760.1",
"gene_hgnc_id": 8512,
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}