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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: 4-47595894-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47595894&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CORIN",
"hgnc_id": 19012,
"hgvs_c": "c.2956G>A",
"hgvs_p": "p.Gly986Ser",
"inheritance_mode": "Unknown",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_006587.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.9633,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9849938154220581,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 3074,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2956,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_006587.4",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2956G>A",
"hgvs_p": "p.Gly986Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000273857.9",
"protein_coding": true,
"protein_id": "NP_006578.2",
"strand": false,
"transcript": "NM_006587.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "G",
"aa_start": 986,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 3074,
"cds_end": null,
"cds_length": 3129,
"cds_start": 2956,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000273857.9",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2956G>A",
"hgvs_p": "p.Gly986Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006587.4",
"protein_coding": true,
"protein_id": "ENSP00000273857.4",
"strand": false,
"transcript": "ENST00000273857.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "G",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 3210,
"cds_end": null,
"cds_length": 3204,
"cds_start": 3031,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000961995.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.3031G>A",
"hgvs_p": "p.Gly1011Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632054.1",
"strand": false,
"transcript": "ENST00000961995.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "G",
"aa_start": 980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": 3117,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2938,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000961980.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2938G>A",
"hgvs_p": "p.Gly980Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632039.1",
"strand": false,
"transcript": "ENST00000961980.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1015,
"aa_ref": "G",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": 2998,
"cds_end": null,
"cds_length": 3048,
"cds_start": 2875,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000961985.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2875G>A",
"hgvs_p": "p.Gly959Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632044.1",
"strand": false,
"transcript": "ENST00000961985.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "G",
"aa_start": 955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2863,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000961989.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2863G>A",
"hgvs_p": "p.Gly955Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632048.1",
"strand": false,
"transcript": "ENST00000961989.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "G",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4893,
"cdna_start": 3000,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2848,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000891633.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2848G>A",
"hgvs_p": "p.Gly950Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561692.1",
"strand": false,
"transcript": "ENST00000891633.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "G",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 3031,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2848,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000891636.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2848G>A",
"hgvs_p": "p.Gly950Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561695.1",
"strand": false,
"transcript": "ENST00000891636.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "G",
"aa_start": 949,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 2845,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2845,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000505909.5",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2845G>A",
"hgvs_p": "p.Gly949Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425401.1",
"strand": false,
"transcript": "ENST00000505909.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "G",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4892,
"cdna_start": 2999,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000891632.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Gly948Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561691.1",
"strand": false,
"transcript": "ENST00000891632.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "G",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 3012,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000961993.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Gly947Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632052.1",
"strand": false,
"transcript": "ENST00000961993.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 979,
"aa_ref": "G",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 2944,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2767,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000961994.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2767G>A",
"hgvs_p": "p.Gly923Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632053.1",
"strand": false,
"transcript": "ENST00000961994.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 975,
"aa_ref": "G",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 2878,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000502252.5",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2755G>A",
"hgvs_p": "p.Gly919Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424212.1",
"strand": false,
"transcript": "ENST00000502252.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 970,
"aa_ref": "G",
"aa_start": 914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4788,
"cdna_start": 2897,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2740,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000961982.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2740G>A",
"hgvs_p": "p.Gly914Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632041.1",
"strand": false,
"transcript": "ENST00000961982.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 969,
"aa_ref": "G",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3713,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000891635.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Gly913Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561694.1",
"strand": false,
"transcript": "ENST00000891635.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 969,
"aa_ref": "G",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4782,
"cdna_start": 2894,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000961984.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Gly913Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632043.1",
"strand": false,
"transcript": "ENST00000961984.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 969,
"aa_ref": "G",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4748,
"cdna_start": 2855,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000961988.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Gly913Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632047.1",
"strand": false,
"transcript": "ENST00000961988.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 967,
"aa_ref": "G",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 2849,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2731,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000961991.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Gly911Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632050.1",
"strand": false,
"transcript": "ENST00000961991.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 939,
"aa_ref": "G",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4663,
"cdna_start": 2770,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2647,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000891634.1",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Gly883Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561693.1",
"strand": false,
"transcript": "ENST00000891634.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 938,
"aa_ref": "G",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2644,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001278585.2",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Gly882Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265514.1",
"strand": false,
"transcript": "NM_001278585.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 938,
"aa_ref": "G",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 2801,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2644,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000610355.4",
"gene_hgnc_id": 19012,
"gene_symbol": "CORIN",
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Gly882Ser",
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