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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-85271431-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=85271431&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF711",
"hgnc_id": 13128,
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001330574.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.988,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3192044496536255,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4559,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001330574.2",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674551.1",
"protein_coding": true,
"protein_id": "NP_001317503.1",
"strand": true,
"transcript": "NM_001330574.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4559,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000674551.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330574.2",
"protein_coding": true,
"protein_id": "ENSP00000502839.1",
"strand": true,
"transcript": "ENST00000674551.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4844,
"cdna_start": 2913,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000360700.4",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353922.4",
"strand": true,
"transcript": "ENST00000360700.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 761,
"aa_ref": "R",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2887,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1889,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000276123.7",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.1889G>A",
"hgvs_p": "p.Arg630His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000276123.3",
"strand": true,
"transcript": "ENST00000276123.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 761,
"aa_ref": "R",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4124,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1889,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000373165.7",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.1889G>A",
"hgvs_p": "p.Arg630His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362260.3",
"strand": true,
"transcript": "ENST00000373165.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001375431.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362360.1",
"strand": true,
"transcript": "NM_001375431.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 2628,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001375432.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362361.1",
"strand": true,
"transcript": "NM_001375432.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4917,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001375433.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362362.1",
"strand": true,
"transcript": "NM_001375433.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 4050,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881748.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551807.1",
"strand": true,
"transcript": "ENST00000881748.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": 2374,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881753.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551812.1",
"strand": true,
"transcript": "ENST00000881753.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 2648,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881755.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551814.1",
"strand": true,
"transcript": "ENST00000881755.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4512,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881756.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551815.1",
"strand": true,
"transcript": "ENST00000881756.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4323,
"cdna_start": 2392,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881760.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551819.1",
"strand": true,
"transcript": "ENST00000881760.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 2250,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000939582.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609641.1",
"strand": true,
"transcript": "ENST00000939582.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4823,
"cdna_start": 2895,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939583.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609642.1",
"strand": true,
"transcript": "ENST00000939583.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 807,
"aa_ref": "R",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4262,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939586.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.2027G>A",
"hgvs_p": "p.Arg676His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609645.1",
"strand": true,
"transcript": "ENST00000939586.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 769,
"aa_ref": "R",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1913,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939588.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.1913G>A",
"hgvs_p": "p.Arg638His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609647.1",
"strand": true,
"transcript": "ENST00000939588.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4431,
"cdna_start": 2503,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1904,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939578.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609637.1",
"strand": true,
"transcript": "ENST00000939578.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 766,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4177,
"cdna_start": 2251,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1904,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939579.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609638.1",
"strand": true,
"transcript": "ENST00000939579.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1904,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000972099.1",
"gene_hgnc_id": 13128,
"gene_symbol": "ZNF711",
"hgvs_c": "c.1904G>A",
"hgvs_p": "p.Arg635His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642158.1",
"strand": true,
"transcript": "ENST00000972099.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 761,
"aa_ref": "R",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1889,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001375434.1",
"gene_hgnc_id": 13128,
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