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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: 1-51750173-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=51750173&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "OSBPL9",
"hgnc_id": 16386,
"hgvs_c": "c.-222T>C",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001350208.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9574,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6294578313827515,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 736,
"aa_ref": "I",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 540,
"cds_end": null,
"cds_length": 2211,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_024586.6",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000428468.6",
"protein_coding": true,
"protein_id": "NP_078862.4",
"strand": true,
"transcript": "NM_024586.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 736,
"aa_ref": "I",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 540,
"cds_end": null,
"cds_length": 2211,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000428468.6",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024586.6",
"protein_coding": true,
"protein_id": "ENSP00000407168.1",
"strand": true,
"transcript": "ENST00000428468.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 719,
"aa_ref": "I",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2842,
"cdna_start": 472,
"cds_end": null,
"cds_length": 2160,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000453295.5",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.470T>C",
"hgvs_p": "p.Ile157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413263.1",
"strand": true,
"transcript": "ENST00000453295.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 626,
"aa_ref": "I",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1881,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000361556.9",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Ile77Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354970.5",
"strand": true,
"transcript": "ENST00000361556.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 558,
"aa_ref": "I",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": 424,
"cds_end": null,
"cds_length": 1677,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000462759.5",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Ile9Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433279.1",
"strand": true,
"transcript": "ENST00000462759.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 550,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": null,
"cds_end": null,
"cds_length": 1653,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001350208.2",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.-222T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337137.1",
"strand": true,
"transcript": "NM_001350208.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 550,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": null,
"cds_end": null,
"cds_length": 1653,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001350209.2",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.-222T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337138.1",
"strand": true,
"transcript": "NM_001350209.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 521,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": null,
"cds_end": null,
"cds_length": 1566,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001350210.2",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.-160T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337139.1",
"strand": true,
"transcript": "NM_001350210.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 755,
"aa_ref": "I",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 543,
"cds_end": null,
"cds_length": 2268,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930350.1",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600409.1",
"strand": true,
"transcript": "ENST00000930350.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 754,
"aa_ref": "I",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 2265,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001416292.1",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Ile192Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403221.1",
"strand": true,
"transcript": "NM_001416292.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 754,
"aa_ref": "I",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 2265,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001416293.1",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Ile192Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403222.1",
"strand": true,
"transcript": "NM_001416293.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 754,
"aa_ref": "I",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 2265,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001416294.1",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Ile192Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403223.1",
"strand": true,
"transcript": "NM_001416294.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 746,
"aa_ref": "I",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3690,
"cdna_start": 609,
"cds_end": null,
"cds_length": 2241,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_148909.4",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.590T>C",
"hgvs_p": "p.Ile197Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_683707.3",
"strand": true,
"transcript": "NM_148909.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 746,
"aa_ref": "I",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2940,
"cdna_start": 609,
"cds_end": null,
"cds_length": 2241,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000447887.5",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.590T>C",
"hgvs_p": "p.Ile197Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412733.1",
"strand": true,
"transcript": "ENST00000447887.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 744,
"aa_ref": "I",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 540,
"cds_end": null,
"cds_length": 2235,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888375.1",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558434.1",
"strand": true,
"transcript": "ENST00000888375.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 741,
"aa_ref": "I",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3333,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 2226,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001416295.1",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Ile192Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403224.1",
"strand": true,
"transcript": "NM_001416295.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 734,
"aa_ref": "I",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 543,
"cds_end": null,
"cds_length": 2205,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888374.1",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558433.1",
"strand": true,
"transcript": "ENST00000888374.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 723,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 540,
"cds_end": null,
"cds_length": 2172,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_148908.4",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_683706.3",
"strand": true,
"transcript": "NM_148908.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 723,
"aa_ref": "I",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 2172,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000371714.5",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Ile174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360779.1",
"strand": true,
"transcript": "ENST00000371714.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 719,
"aa_ref": "I",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 489,
"cds_end": null,
"cds_length": 2160,
"cds_start": 470,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_148906.3",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.470T>C",
"hgvs_p": "p.Ile157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_683704.2",
"strand": true,
"transcript": "NM_148906.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 714,
"aa_ref": "I",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 540,
"cds_end": null,
"cds_length": 2145,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888377.1",
"gene_hgnc_id": 16386,
"gene_symbol": "OSBPL9",
"hgvs_c": "c.521T>C",
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