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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: 4-47643044-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47643044&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 47643044,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001278586.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2068+102C>T",
"hgvs_p": null,
"transcript": "NM_006587.4",
"protein_id": "NP_006578.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2068+102C>T",
"hgvs_p": null,
"transcript": "ENST00000273857.9",
"protein_id": "ENSP00000273857.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
"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": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2059C>T",
"hgvs_p": "p.His687Tyr",
"transcript": "NM_001278586.2",
"protein_id": "NP_001265515.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 734,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278586.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2059C>T",
"hgvs_p": "p.His687Tyr",
"transcript": "ENST00000504584.1",
"protein_id": "ENSP00000423216.1",
"transcript_support_level": 2,
"aa_start": 687,
"aa_end": null,
"aa_length": 734,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504584.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2068+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961995.1",
"protein_id": "ENSP00000632054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2050+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961980.1",
"protein_id": "ENSP00000632039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1036,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1987+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961985.1",
"protein_id": "ENSP00000632044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1015,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1975+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961989.1",
"protein_id": "ENSP00000632048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1960+102C>T",
"hgvs_p": null,
"transcript": "ENST00000891633.1",
"protein_id": "ENSP00000561692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1960+102C>T",
"hgvs_p": null,
"transcript": "ENST00000891636.1",
"protein_id": "ENSP00000561695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1006,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1957+102C>T",
"hgvs_p": null,
"transcript": "ENST00000505909.5",
"protein_id": "ENSP00000425401.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1954+102C>T",
"hgvs_p": null,
"transcript": "ENST00000891632.1",
"protein_id": "ENSP00000561691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": null,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.2068+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961993.1",
"protein_id": "ENSP00000632052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1003,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1879+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961994.1",
"protein_id": "ENSP00000632053.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961994.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1867+102C>T",
"hgvs_p": null,
"transcript": "ENST00000502252.5",
"protein_id": "ENSP00000424212.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1852+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961982.1",
"protein_id": "ENSP00000632041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1849+102C>T",
"hgvs_p": null,
"transcript": "ENST00000891635.1",
"protein_id": "ENSP00000561694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": null,
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"cds_length": 2910,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891635.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1849+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961984.1",
"protein_id": "ENSP00000632043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": null,
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"cds_length": 2910,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961984.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1849+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961988.1",
"protein_id": "ENSP00000632047.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961988.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1960+102C>T",
"hgvs_p": null,
"transcript": "ENST00000961991.1",
"protein_id": "ENSP00000632050.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961991.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1759+102C>T",
"hgvs_p": null,
"transcript": "ENST00000891634.1",
"protein_id": "ENSP00000561693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": null,
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"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CORIN",
"gene_hgnc_id": 19012,
"hgvs_c": "c.1756+102C>T",
"hgvs_p": null,
"transcript": "NM_001278585.2",
"protein_id": "NP_001265514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"splice_prediction_selected": "Benign",
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{
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"BS2"
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"verdict": "Benign",
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"effects": [
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{
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],
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"phenotype_combined": "not provided|CORIN-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}