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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: 18-54280888-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=54280888&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 54280888,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007195.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.781A>G",
"hgvs_p": "p.Ile261Val",
"transcript": "NM_007195.3",
"protein_id": "NP_009126.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 740,
"cds_start": 781,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000579534.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007195.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.781A>G",
"hgvs_p": "p.Ile261Val",
"transcript": "ENST00000579534.6",
"protein_id": "ENSP00000462664.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 740,
"cds_start": 781,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007195.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579534.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Ile158Val",
"transcript": "ENST00000579434.5",
"protein_id": "ENSP00000462681.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 637,
"cds_start": 472,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579434.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "NM_001351632.2",
"protein_id": "NP_001338561.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 715,
"cds_start": 706,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351632.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Ile219Val",
"transcript": "NM_001351610.1",
"protein_id": "NP_001338539.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 698,
"cds_start": 655,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351610.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Ile210Val",
"transcript": "ENST00000930897.1",
"protein_id": "ENSP00000600956.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 689,
"cds_start": 628,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930897.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.595A>G",
"hgvs_p": "p.Ile199Val",
"transcript": "ENST00000217800.9",
"protein_id": "ENSP00000217800.6",
"transcript_support_level": 5,
"aa_start": 199,
"aa_end": null,
"aa_length": 678,
"cds_start": 595,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217800.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_001351611.2",
"protein_id": "NP_001338540.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 672,
"cds_start": 577,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351611.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "NM_001351612.2",
"protein_id": "NP_001338541.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 672,
"cds_start": 577,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351612.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.490A>G",
"hgvs_p": "p.Ile164Val",
"transcript": "ENST00000854650.1",
"protein_id": "ENSP00000524709.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 643,
"cds_start": 490,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854650.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Ile158Val",
"transcript": "NM_001351614.2",
"protein_id": "NP_001338543.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 637,
"cds_start": 472,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351614.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Ile158Val",
"transcript": "NM_001351615.2",
"protein_id": "NP_001338544.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 637,
"cds_start": 472,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351615.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Ile80Val",
"transcript": "NM_001351617.2",
"protein_id": "NP_001338546.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 559,
"cds_start": 238,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351617.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Ile80Val",
"transcript": "NM_001351618.2",
"protein_id": "NP_001338547.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 559,
"cds_start": 238,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351618.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.238A>G",
"hgvs_p": "p.Ile80Val",
"transcript": "NM_001351619.2",
"protein_id": "NP_001338548.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 559,
"cds_start": 238,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351619.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.781A>G",
"hgvs_p": "p.Ile261Val",
"transcript": "NM_001351621.1",
"protein_id": "NP_001338550.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 430,
"cds_start": 781,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351621.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Ile193Val",
"transcript": "ENST00000583136.5",
"protein_id": "ENSP00000463071.1",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 221,
"cds_start": 577,
"cds_end": null,
"cds_length": 667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583136.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Ile158Val",
"transcript": "XM_024451081.2",
"protein_id": "XP_024306849.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 637,
"cds_start": 472,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451081.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.781A>G",
"hgvs_p": "p.Ile261Val",
"transcript": "XM_011525797.2",
"protein_id": "XP_011524099.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 430,
"cds_start": 781,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525797.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.781A>G",
"hgvs_p": "p.Ile261Val",
"transcript": "XM_005258192.5",
"protein_id": "XP_005258249.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 401,
"cds_start": 781,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258192.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.560-1949A>G",
"hgvs_p": null,
"transcript": "NM_001351613.1",
"protein_id": "NP_001338542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.560-1949A>G",
"hgvs_p": null,
"transcript": "ENST00000406285.7",
"protein_id": "ENSP00000385196.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406285.7"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": true,
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}
],
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}