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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: 1-48727942-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=48727942&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BEND5",
"hgnc_id": 25668,
"hgvs_c": "c.1210A>C",
"hgvs_p": "p.Ile404Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_024603.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "AGBL4",
"hgnc_id": 25892,
"hgvs_c": "c.671-64701A>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001323574.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9674,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.46209487318992615,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 421,
"aa_ref": "I",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_024603.4",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.1210A>C",
"hgvs_p": "p.Ile404Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371833.4",
"protein_coding": true,
"protein_id": "NP_078879.2",
"strand": false,
"transcript": "NM_024603.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 421,
"aa_ref": "I",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1210,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000371833.4",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.1210A>C",
"hgvs_p": "p.Ile404Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024603.4",
"protein_coding": true,
"protein_id": "ENSP00000360899.3",
"strand": false,
"transcript": "ENST00000371833.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032785.4",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.635-64701A>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371839.6",
"protein_coding": true,
"protein_id": "NP_116174.3",
"strand": false,
"transcript": "NM_032785.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371839.6",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.635-64701A>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032785.4",
"protein_coding": true,
"protein_id": "ENSP00000360905.1",
"strand": false,
"transcript": "ENST00000371839.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": null,
"cds_end": null,
"cds_length": 897,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000416121.5",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.170-64701A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401622.1",
"strand": false,
"transcript": "ENST00000416121.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000463562.1",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "n.1393A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000463562.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 420,
"aa_ref": "I",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1313,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1207,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936956.1",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.1207A>C",
"hgvs_p": "p.Ile403Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607015.1",
"strand": false,
"transcript": "ENST00000936956.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 336,
"aa_ref": "I",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1011,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001349795.2",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.955A>C",
"hgvs_p": "p.Ile319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336724.1",
"strand": false,
"transcript": "NM_001349795.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "I",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 759,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001302082.2",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.703A>C",
"hgvs_p": "p.Ile235Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289011.1",
"strand": false,
"transcript": "NM_001302082.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "I",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 759,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349793.2",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.703A>C",
"hgvs_p": "p.Ile235Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336722.1",
"strand": false,
"transcript": "NM_001349793.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "I",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 759,
"cds_start": 703,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349794.2",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.703A>C",
"hgvs_p": "p.Ile235Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336723.1",
"strand": false,
"transcript": "NM_001349794.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 367,
"aa_ref": "I",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1597,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1104,
"cds_start": 1048,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047430497.1",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.1048A>C",
"hgvs_p": "p.Ile350Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286453.1",
"strand": false,
"transcript": "XM_047430497.1",
"transcript_support_level": null
},
{
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"aa_length": 336,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4278,
"cdna_start": 3855,
"cds_end": null,
"cds_length": 1011,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011542141.4",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.955A>C",
"hgvs_p": "p.Ile319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540443.1",
"strand": false,
"transcript": "XM_011542141.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 336,
"aa_ref": "I",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 1011,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047430505.1",
"gene_hgnc_id": 25668,
"gene_symbol": "BEND5",
"hgvs_c": "c.955A>C",
"hgvs_p": "p.Ile319Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286461.1",
"strand": false,
"transcript": "XM_047430505.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": null,
"cds_end": null,
"cds_length": 1548,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323574.2",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.671-64701A>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310503.1",
"strand": false,
"transcript": "NM_001323574.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": null,
"cds_end": null,
"cds_length": 1521,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323573.2",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.671-64701A>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310502.1",
"strand": false,
"transcript": "NM_001323573.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001323575.2",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.635-64701A>C",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001310504.1",
"strand": false,
"transcript": "NM_001323575.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000371838.5",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.635-64701A>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360904.1",
"strand": false,
"transcript": "ENST00000371838.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1596,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011542308.3",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.671-64701A>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540610.1",
"strand": false,
"transcript": "XM_011542308.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 491,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": null,
"cds_end": null,
"cds_length": 1476,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017002595.3",
"gene_hgnc_id": 25892,
"gene_symbol": "AGBL4",
"hgvs_c": "c.635-64701A>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858084.1",
"strand": false,
"transcript": "XM_017002595.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 490,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5724,
"cdna_start": null,
"cds_end": null,
"cds_length": 1473,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
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