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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: 7-24830856-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24830856&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OSBPL3",
"hgnc_id": 16370,
"hgvs_c": "c.1796G>C",
"hgvs_p": "p.Arg599Pro",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_015550.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9972,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8486796617507935,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 887,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6749,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_015550.4",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1796G>C",
"hgvs_p": "p.Arg599Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313367.7",
"protein_coding": true,
"protein_id": "NP_056365.1",
"strand": false,
"transcript": "NM_015550.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 887,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6749,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1796,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000313367.7",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1796G>C",
"hgvs_p": "p.Arg599Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015550.4",
"protein_coding": true,
"protein_id": "ENSP00000315410.2",
"strand": false,
"transcript": "ENST00000313367.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1703,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000396431.5",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1703G>C",
"hgvs_p": "p.Arg568Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379708.1",
"strand": false,
"transcript": "ENST00000396431.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2707,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000396429.5",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1688G>C",
"hgvs_p": "p.Arg563Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379706.1",
"strand": false,
"transcript": "ENST00000396429.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000409069.5",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1595G>C",
"hgvs_p": "p.Arg532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386953.1",
"strand": false,
"transcript": "ENST00000409069.5",
"transcript_support_level": 1
},
{
"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": 3344,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000409452.5",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "n.*266G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386801.1",
"strand": false,
"transcript": "ENST00000409452.5",
"transcript_support_level": 1
},
{
"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": 3490,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409863.5",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "n.*266G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386429.1",
"strand": false,
"transcript": "ENST00000409863.5",
"transcript_support_level": 1
},
{
"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": 3344,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000409452.5",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "n.*266G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386801.1",
"strand": false,
"transcript": "ENST00000409452.5",
"transcript_support_level": 1
},
{
"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": 3490,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000409863.5",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "n.*266G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386429.1",
"strand": false,
"transcript": "ENST00000409863.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 877,
"aa_ref": "R",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6718,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 2634,
"cds_start": 1766,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000969022.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1766G>C",
"hgvs_p": "p.Arg589Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639081.1",
"strand": false,
"transcript": "ENST00000969022.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 873,
"aa_ref": "R",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6116,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000940424.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1754G>C",
"hgvs_p": "p.Arg585Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610483.1",
"strand": false,
"transcript": "ENST00000940424.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 869,
"aa_ref": "R",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 2610,
"cds_start": 1742,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000898370.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1742G>C",
"hgvs_p": "p.Arg581Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568429.1",
"strand": false,
"transcript": "ENST00000898370.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6366,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1703,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_145320.2",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1703G>C",
"hgvs_p": "p.Arg568Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663160.1",
"strand": false,
"transcript": "NM_145320.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 851,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6351,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_145321.2",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1688G>C",
"hgvs_p": "p.Arg563Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663161.1",
"strand": false,
"transcript": "NM_145321.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6258,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_145322.2",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1595G>C",
"hgvs_p": "p.Arg532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663162.1",
"strand": false,
"transcript": "NM_145322.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 820,
"aa_ref": "R",
"aa_start": 532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6529,
"cdna_start": 2018,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000940423.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1595G>C",
"hgvs_p": "p.Arg532Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610482.1",
"strand": false,
"transcript": "ENST00000940423.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 806,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3102,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1553,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000940425.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1553G>C",
"hgvs_p": "p.Arg518Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610484.1",
"strand": false,
"transcript": "ENST00000940425.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 909,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6818,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1862,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047420129.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1862G>C",
"hgvs_p": "p.Arg621Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276085.1",
"strand": false,
"transcript": "XM_047420129.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 909,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6706,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1862,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047420130.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1862G>C",
"hgvs_p": "p.Arg621Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276086.1",
"strand": false,
"transcript": "XM_047420130.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 909,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6841,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1862,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047420131.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1862G>C",
"hgvs_p": "p.Arg621Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276087.1",
"strand": false,
"transcript": "XM_047420131.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 909,
"aa_ref": "R",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6616,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1862,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_047420132.1",
"gene_hgnc_id": 16370,
"gene_symbol": "OSBPL3",
"hgvs_c": "c.1862G>C",
"hgvs_p": "p.Arg621Pro",
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