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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: 15-27926186-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=27926186&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OCA2",
"hgnc_id": 8101,
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Leu674Ile",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_000275.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3",
"acmg_score": 7,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1517,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.06,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8205086588859558,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 838,
"aa_ref": "L",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2517,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_000275.3",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Leu674Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354638.8",
"protein_coding": true,
"protein_id": "NP_000266.2",
"strand": false,
"transcript": "NM_000275.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 838,
"aa_ref": "L",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2517,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000354638.8",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Leu674Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000275.3",
"protein_coding": true,
"protein_id": "ENSP00000346659.3",
"strand": false,
"transcript": "ENST00000354638.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 814,
"aa_ref": "L",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 2058,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000353809.9",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1948C>A",
"hgvs_p": "p.Leu650Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261276.8",
"strand": false,
"transcript": "ENST00000353809.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 920,
"aa_ref": "L",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000910120.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Leu674Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580179.1",
"strand": false,
"transcript": "ENST00000910120.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 889,
"aa_ref": "L",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 2532,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000943942.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2173C>A",
"hgvs_p": "p.Leu725Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614001.1",
"strand": false,
"transcript": "ENST00000943942.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 852,
"aa_ref": "L",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000943940.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Leu674Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613999.1",
"strand": false,
"transcript": "ENST00000943940.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 814,
"aa_ref": "L",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3071,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001300984.2",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1948C>A",
"hgvs_p": "p.Leu650Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287913.1",
"strand": false,
"transcript": "NM_001300984.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 814,
"aa_ref": "L",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000943939.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1948C>A",
"hgvs_p": "p.Leu650Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613998.1",
"strand": false,
"transcript": "ENST00000943939.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 783,
"aa_ref": "L",
"aa_start": 674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2352,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000910119.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Leu674Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580178.1",
"strand": false,
"transcript": "ENST00000910119.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 759,
"aa_ref": "L",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2895,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000943941.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1948C>A",
"hgvs_p": "p.Leu650Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614000.1",
"strand": false,
"transcript": "ENST00000943941.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 860,
"aa_ref": "L",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 3386,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2044,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017022255.2",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2044C>A",
"hgvs_p": "p.Leu682Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877744.1",
"strand": false,
"transcript": "XM_017022255.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 852,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2020,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011521640.3",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Leu674Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519942.1",
"strand": false,
"transcript": "XM_011521640.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 4338,
"cds_end": null,
"cds_length": 2541,
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"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017022256.2",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2044C>A",
"hgvs_p": "p.Leu682Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877745.1",
"strand": false,
"transcript": "XM_017022256.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 836,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 4267,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017022257.2",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1972C>A",
"hgvs_p": "p.Leu658Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877746.1",
"strand": false,
"transcript": "XM_017022257.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4341,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2044,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017022258.2",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2044C>A",
"hgvs_p": "p.Leu682Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877747.1",
"strand": false,
"transcript": "XM_017022258.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 828,
"aa_ref": "L",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3113,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 2487,
"cds_start": 1948,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047432605.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1948C>A",
"hgvs_p": "p.Leu650Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288561.1",
"strand": false,
"transcript": "XM_047432605.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2133,
"cds_end": null,
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"cds_start": 2020,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 19,
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"feature": "XM_047432606.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.2020C>A",
"hgvs_p": "p.Leu674Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288562.1",
"strand": false,
"transcript": "XM_047432606.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 4265,
"cds_end": null,
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"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017022259.2",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1972C>A",
"hgvs_p": "p.Leu658Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877748.1",
"strand": false,
"transcript": "XM_017022259.2",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 4202,
"cds_end": null,
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"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017022260.2",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1906C>A",
"hgvs_p": "p.Leu636Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877749.1",
"strand": false,
"transcript": "XM_017022260.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 811,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5001,
"cdna_start": 4268,
"cds_end": null,
"cds_length": 2436,
"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047432607.1",
"gene_hgnc_id": 8101,
"gene_symbol": "OCA2",
"hgvs_c": "c.1972C>A",
"hgvs_p": "p.Leu658Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288563.1",
"strand": false,
"transcript": "XM_047432607.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 806,
"aa_ref": "L",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1882,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
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