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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: 8-144084468-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144084468&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144084468,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003801.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Leu290Gln",
"transcript": "NM_003801.4",
"protein_id": "NP_003792.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 621,
"cds_start": 869,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355091.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003801.4"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Leu290Gln",
"transcript": "ENST00000355091.9",
"protein_id": "ENSP00000347206.4",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 621,
"cds_start": 869,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003801.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355091.9"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.689T>A",
"hgvs_p": "p.Leu230Gln",
"transcript": "ENST00000361036.11",
"protein_id": "ENSP00000354316.6",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 561,
"cds_start": 689,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361036.11"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Leu290Gln",
"transcript": "ENST00000703648.1",
"protein_id": "ENSP00000515415.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 626,
"cds_start": 869,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703648.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Leu290Gln",
"transcript": "ENST00000703649.1",
"protein_id": "ENSP00000515416.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 624,
"cds_start": 869,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703649.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.863T>A",
"hgvs_p": "p.Leu288Gln",
"transcript": "ENST00000967426.1",
"protein_id": "ENSP00000637485.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 624,
"cds_start": 863,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967426.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.863T>A",
"hgvs_p": "p.Leu288Gln",
"transcript": "ENST00000703620.1",
"protein_id": "ENSP00000515404.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 619,
"cds_start": 863,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703620.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Leu290Gln",
"transcript": "ENST00000934431.1",
"protein_id": "ENSP00000604490.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 618,
"cds_start": 869,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934431.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Leu290Gln",
"transcript": "ENST00000877764.1",
"protein_id": "ENSP00000547823.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 613,
"cds_start": 869,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877764.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Leu276Gln",
"transcript": "ENST00000877765.1",
"protein_id": "ENSP00000547824.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 612,
"cds_start": 827,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877765.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Leu276Gln",
"transcript": "ENST00000967425.1",
"protein_id": "ENSP00000637484.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 612,
"cds_start": 827,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967425.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Leu290Gln",
"transcript": "ENST00000877766.1",
"protein_id": "ENSP00000547825.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 611,
"cds_start": 869,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877766.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Leu276Gln",
"transcript": "ENST00000524418.6",
"protein_id": "ENSP00000434544.2",
"transcript_support_level": 3,
"aa_start": 276,
"aa_end": null,
"aa_length": 607,
"cds_start": 827,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524418.6"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Leu276Gln",
"transcript": "ENST00000703633.1",
"protein_id": "ENSP00000515410.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 607,
"cds_start": 827,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703633.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Leu290Gln",
"transcript": "ENST00000703621.1",
"protein_id": "ENSP00000515405.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 606,
"cds_start": 869,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703621.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.863T>A",
"hgvs_p": "p.Leu288Gln",
"transcript": "ENST00000704807.1",
"protein_id": "ENSP00000516044.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 604,
"cds_start": 863,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704807.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.794T>A",
"hgvs_p": "p.Leu265Gln",
"transcript": "ENST00000967424.1",
"protein_id": "ENSP00000637483.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 596,
"cds_start": 794,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967424.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.788T>A",
"hgvs_p": "p.Leu263Gln",
"transcript": "ENST00000877763.1",
"protein_id": "ENSP00000547822.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 594,
"cds_start": 788,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877763.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.785T>A",
"hgvs_p": "p.Leu262Gln",
"transcript": "ENST00000967427.1",
"protein_id": "ENSP00000637486.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 593,
"cds_start": 785,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967427.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Leu276Gln",
"transcript": "ENST00000704809.1",
"protein_id": "ENSP00000516046.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 592,
"cds_start": 827,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704809.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Leu276Gln",
"transcript": "ENST00000967428.1",
"protein_id": "ENSP00000637487.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 592,
"cds_start": 827,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967428.1"
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPAA1",
"gene_hgnc_id": 4446,
"hgvs_c": "c.761T>A",
"hgvs_p": "p.Leu254Gln",
"transcript": "ENST00000877767.1",
"protein_id": "ENSP00000547826.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 585,
"cds_start": 761,
"cds_end": null,
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{
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{
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}