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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: 2-43979825-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43979825&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43979825,
"ref": "C",
"alt": "G",
"effect": "splice_donor_variant,intron_variant",
"transcript": "ENST00000260665.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "NM_133259.4",
"protein_id": "NP_573566.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1394,
"cds_start": -4,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": "ENST00000260665.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000260665.12",
"protein_id": "ENSP00000260665.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1394,
"cds_start": -4,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6603,
"mane_select": "NM_133259.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000447246.2",
"protein_id": "ENSP00000403637.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000409946.6",
"protein_id": "ENSP00000386234.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000683125.1",
"protein_id": "ENSP00000507939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1430,
"cds_start": -4,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000683220.1",
"protein_id": "ENSP00000507151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1404,
"cds_start": -4,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000682480.1",
"protein_id": "ENSP00000508344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": -4,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000683213.1",
"protein_id": "ENSP00000507751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000682546.1",
"protein_id": "ENSP00000508188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1393,
"cds_start": -4,
"cds_end": null,
"cds_length": 4182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.460+1G>C",
"hgvs_p": null,
"transcript": "ENST00000682779.1",
"protein_id": "ENSP00000507947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1391,
"cds_start": -4,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000682885.1",
"protein_id": "ENSP00000508036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000682308.1",
"protein_id": "ENSP00000507056.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1369,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.460+1G>C",
"hgvs_p": null,
"transcript": "ENST00000683833.1",
"protein_id": "ENSP00000506852.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 3,
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"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
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"transcript": "ENST00000683623.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000683590.1",
"protein_id": "ENSP00000506820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
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"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000683989.1",
"protein_id": "ENSP00000507510.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.469+1G>C",
"hgvs_p": null,
"transcript": "ENST00000409659.6",
"protein_id": "ENSP00000386562.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
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"cds_length": 2526,
"cdna_start": null,
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"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "c.343+1G>C",
"hgvs_p": null,
"transcript": "ENST00000682104.1",
"protein_id": "ENSP00000507716.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 795,
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"cdna_start": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.83+1G>C",
"hgvs_p": null,
"transcript": "ENST00000681959.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.489+1G>C",
"hgvs_p": null,
"transcript": "ENST00000681961.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.*341+1G>C",
"hgvs_p": null,
"transcript": "ENST00000682303.1",
"protein_id": "ENSP00000508325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LRPPRC",
"gene_hgnc_id": 15714,
"hgvs_c": "n.433+1G>C",
"hgvs_p": null,
"transcript": "ENST00000682496.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.763,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999988247793601,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000260665.12",
"gene_symbol": "LRPPRC",
"hgnc_id": 15714,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.469+1G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}