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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: 18-62147021-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=62147021&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 62147021,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000400334.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "NM_176787.5",
"protein_id": "NP_789744.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": "ENST00000640252.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000640252.2",
"protein_id": "ENSP00000492233.1",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 7936,
"mane_select": "NM_176787.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000400334.7",
"protein_id": "ENSP00000383188.2",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1108,
"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": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "n.755A>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": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "NM_001438896.1",
"protein_id": "NP_001425825.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 970,
"cds_start": 755,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000639902.1",
"protein_id": "ENSP00000490965.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 970,
"cds_start": 755,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000640540.1",
"protein_id": "ENSP00000491620.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 970,
"cds_start": 755,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000639174.1",
"protein_id": "ENSP00000492783.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 936,
"cds_start": 755,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "NM_012327.6",
"protein_id": "NP_036459.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 7859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000357637.10",
"protein_id": "ENSP00000350263.4",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000638936.1",
"protein_id": "ENSP00000492592.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000640050.1",
"protein_id": "ENSP00000492051.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000640145.1",
"protein_id": "ENSP00000491525.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000640876.1",
"protein_id": "ENSP00000491628.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 931,
"cds_start": 755,
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"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "NM_001438904.1",
"protein_id": "NP_001425833.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 929,
"cds_start": 755,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000638977.1",
"protein_id": "ENSP00000491010.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 911,
"cds_start": 755,
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"cdna_start": 1000,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000639758.1",
"protein_id": "ENSP00000491475.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 911,
"cds_start": 755,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000639912.1",
"protein_id": "ENSP00000490970.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 911,
"cds_start": 755,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 6530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "NM_001438905.1",
"protein_id": "NP_001425834.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 897,
"cds_start": 755,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000638183.1",
"protein_id": "ENSP00000491013.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 897,
"cds_start": 755,
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"cdna_start": 959,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.755A>T",
"hgvs_p": "p.Asp252Val",
"transcript": "ENST00000638369.1",
"protein_id": "ENSP00000491811.1",
"transcript_support_level": 5,
"aa_start": 252,
"aa_end": null,
"aa_length": 870,
"cds_start": 755,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.524A>T",
"hgvs_p": "p.Asp175Val",
"transcript": "ENST00000638435.1",
"protein_id": "ENSP00000491850.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 854,
"cds_start": 524,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGN",
"gene_hgnc_id": 8967,
"hgvs_c": "c.563A>T",
"hgvs_p": "p.Asp188Val",
"transcript": "ENST00000639342.1",
"protein_id": "ENSP00000491022.1",
"transcript_support_level": 5,
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}
],
"message": null
}