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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: 4-47595903-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47595903&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 47595903,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_006587.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2947G>A",
"hgvs_p": "p.Gly983Ser",
"transcript": "NM_006587.4",
"protein_id": "NP_006578.2",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2947,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273857.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006587.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2947G>A",
"hgvs_p": "p.Gly983Ser",
"transcript": "ENST00000273857.9",
"protein_id": "ENSP00000273857.4",
"transcript_support_level": 1,
"aa_start": 983,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2947,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006587.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273857.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.3022G>A",
"hgvs_p": "p.Gly1008Ser",
"transcript": "ENST00000961995.1",
"protein_id": "ENSP00000632054.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1067,
"cds_start": 3022,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961995.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2929G>A",
"hgvs_p": "p.Gly977Ser",
"transcript": "ENST00000961980.1",
"protein_id": "ENSP00000632039.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1036,
"cds_start": 2929,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961980.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Gly956Ser",
"transcript": "ENST00000961985.1",
"protein_id": "ENSP00000632044.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2866,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961985.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Gly952Ser",
"transcript": "ENST00000961989.1",
"protein_id": "ENSP00000632048.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961989.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Gly947Ser",
"transcript": "ENST00000891633.1",
"protein_id": "ENSP00000561692.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891633.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Gly947Ser",
"transcript": "ENST00000891636.1",
"protein_id": "ENSP00000561695.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891636.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2836G>A",
"hgvs_p": "p.Gly946Ser",
"transcript": "ENST00000505909.5",
"protein_id": "ENSP00000425401.1",
"transcript_support_level": 5,
"aa_start": 946,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505909.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2833G>A",
"hgvs_p": "p.Gly945Ser",
"transcript": "ENST00000891632.1",
"protein_id": "ENSP00000561691.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891632.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2830G>A",
"hgvs_p": "p.Gly944Ser",
"transcript": "ENST00000961993.1",
"protein_id": "ENSP00000632052.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2830,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961993.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2758G>A",
"hgvs_p": "p.Gly920Ser",
"transcript": "ENST00000961994.1",
"protein_id": "ENSP00000632053.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 979,
"cds_start": 2758,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961994.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2746G>A",
"hgvs_p": "p.Gly916Ser",
"transcript": "ENST00000502252.5",
"protein_id": "ENSP00000424212.1",
"transcript_support_level": 2,
"aa_start": 916,
"aa_end": null,
"aa_length": 975,
"cds_start": 2746,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502252.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Gly911Ser",
"transcript": "ENST00000961982.1",
"protein_id": "ENSP00000632041.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 970,
"cds_start": 2731,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961982.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Gly910Ser",
"transcript": "ENST00000891635.1",
"protein_id": "ENSP00000561694.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 969,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891635.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Gly910Ser",
"transcript": "ENST00000961984.1",
"protein_id": "ENSP00000632043.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 969,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961984.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2728G>A",
"hgvs_p": "p.Gly910Ser",
"transcript": "ENST00000961988.1",
"protein_id": "ENSP00000632047.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 969,
"cds_start": 2728,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961988.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2722G>A",
"hgvs_p": "p.Gly908Ser",
"transcript": "ENST00000961991.1",
"protein_id": "ENSP00000632050.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 967,
"cds_start": 2722,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961991.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2638G>A",
"hgvs_p": "p.Gly880Ser",
"transcript": "ENST00000891634.1",
"protein_id": "ENSP00000561693.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 939,
"cds_start": 2638,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891634.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Gly879Ser",
"transcript": "NM_001278585.2",
"protein_id": "NP_001265514.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 938,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278585.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2635G>A",
"hgvs_p": "p.Gly879Ser",
"transcript": "ENST00000610355.4",
"protein_id": "ENSP00000484087.1",
"transcript_support_level": 5,
"aa_start": 879,
"aa_end": null,
"aa_length": 938,
"cds_start": 2635,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610355.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
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],
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"splice_prediction_selected": "Pathogenic",
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"dbscsnv_ada_prediction": "Pathogenic",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}