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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: X-2843032-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2843032&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2843032,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003918.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000381163.7",
"protein_id": "ENSP00000370555.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 501,
"cds_start": 42,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381163.7"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.8-181C>T",
"hgvs_p": null,
"transcript": "NM_001079855.2",
"protein_id": "NP_001073324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398806.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079855.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.8-181C>T",
"hgvs_p": null,
"transcript": "ENST00000398806.8",
"protein_id": "ENSP00000381786.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001079855.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398806.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_003918.3",
"protein_id": "NP_003909.2",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 501,
"cds_start": 42,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003918.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000958345.1",
"protein_id": "ENSP00000628404.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 501,
"cds_start": 42,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958345.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000868644.1",
"protein_id": "ENSP00000538703.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 500,
"cds_start": 42,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868644.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000868647.1",
"protein_id": "ENSP00000538706.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 500,
"cds_start": 42,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868647.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Leu12Leu",
"transcript": "ENST00000868640.1",
"protein_id": "ENSP00000538699.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 499,
"cds_start": 36,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868640.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Leu12Leu",
"transcript": "ENST00000868649.1",
"protein_id": "ENSP00000538708.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 499,
"cds_start": 36,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868649.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Leu12Leu",
"transcript": "ENST00000958340.1",
"protein_id": "ENSP00000628399.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 498,
"cds_start": 36,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958340.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Leu12Leu",
"transcript": "ENST00000958342.1",
"protein_id": "ENSP00000628401.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 498,
"cds_start": 36,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958342.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000958343.1",
"protein_id": "ENSP00000628402.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 492,
"cds_start": 42,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958343.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Leu12Leu",
"transcript": "ENST00000922800.1",
"protein_id": "ENSP00000592859.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 490,
"cds_start": 36,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922800.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000922786.1",
"protein_id": "ENSP00000592845.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 467,
"cds_start": 42,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922786.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "NM_001184703.2",
"protein_id": "NP_001171632.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 430,
"cds_start": 42,
"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_001184703.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "ENST00000353656.10",
"protein_id": "ENSP00000487294.1",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 430,
"cds_start": 42,
"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": "ENST00000353656.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Leu12Leu",
"transcript": "ENST00000958339.1",
"protein_id": "ENSP00000628398.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 428,
"cds_start": 36,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958339.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_017029927.2",
"protein_id": "XP_016885416.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 501,
"cds_start": 42,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029927.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_017029928.2",
"protein_id": "XP_016885417.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 501,
"cds_start": 42,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029928.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_017029929.2",
"protein_id": "XP_016885418.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 500,
"cds_start": 42,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029929.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_047442608.1",
"protein_id": "XP_047298564.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 500,
"cds_start": 42,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442608.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu",
"transcript": "XM_047442612.1",
"protein_id": "XP_047298568.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 430,
"cds_start": 42,
"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_047442612.1"
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],
"verdict": "Likely_benign",
"transcript": "NM_003918.3",
"gene_symbol": "GYG2",
"hgnc_id": 4700,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Leu14Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}