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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: 18-62140439-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=62140439&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 62140439,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_176787.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "NM_176787.5",
"protein_id": "NP_789744.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": "ENST00000640252.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000640252.2",
"protein_id": "ENSP00000492233.1",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": "NM_176787.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000400334.7",
"protein_id": "ENSP00000383188.2",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "n.1004C>T",
"hgvs_p": null,
"transcript": "ENST00000638424.1",
"protein_id": "ENSP00000491963.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "NM_001438896.1",
"protein_id": "NP_001425825.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 970,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000639902.1",
"protein_id": "ENSP00000490965.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 970,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000640540.1",
"protein_id": "ENSP00000491620.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 970,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000639174.1",
"protein_id": "ENSP00000492783.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 936,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "NM_012327.6",
"protein_id": "NP_036459.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 7859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000357637.10",
"protein_id": "ENSP00000350263.4",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000638936.1",
"protein_id": "ENSP00000492592.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000640050.1",
"protein_id": "ENSP00000492051.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000640145.1",
"protein_id": "ENSP00000491525.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000640876.1",
"protein_id": "ENSP00000491628.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 931,
"cds_start": 1004,
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"cdna_start": 1249,
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"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "NM_001438904.1",
"protein_id": "NP_001425833.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 929,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "NM_001438905.1",
"protein_id": "NP_001425834.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 897,
"cds_start": 1004,
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"cdna_start": 1249,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000638183.1",
"protein_id": "ENSP00000491013.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 897,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 4046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000638369.1",
"protein_id": "ENSP00000491811.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 870,
"cds_start": 1004,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Pro258Leu",
"transcript": "ENST00000638435.1",
"protein_id": "ENSP00000491850.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
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"cds_start": 773,
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "NM_001438910.1",
"protein_id": "NP_001425839.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 797,
"cds_start": 1004,
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"cdna_start": 1249,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000638167.1",
"protein_id": "ENSP00000491549.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 797,
"cds_start": 1004,
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"cds_length": 2394,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000588571.6",
"protein_id": "ENSP00000466035.2",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 490,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
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}