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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: 18-33883385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=33883385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 33883385,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001384467.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Ala528Thr",
"transcript": "NM_003787.5",
"protein_id": "NP_003778.2",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 638,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261592.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003787.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1582G>A",
"hgvs_p": "p.Ala528Thr",
"transcript": "ENST00000261592.10",
"protein_id": "ENSP00000261592.4",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 638,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003787.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261592.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "ENST00000589544.5",
"protein_id": "ENSP00000465450.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 536,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589544.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1651G>A",
"hgvs_p": "p.Ala551Thr",
"transcript": "NM_001384467.1",
"protein_id": "NP_001371396.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 661,
"cds_start": 1651,
"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_001384467.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1459G>A",
"hgvs_p": "p.Ala487Thr",
"transcript": "NM_001384468.1",
"protein_id": "NP_001371397.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 597,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384468.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Ala485Thr",
"transcript": "NM_001384469.1",
"protein_id": "NP_001371398.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 595,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384469.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Ala464Thr",
"transcript": "NM_001198546.1",
"protein_id": "NP_001185475.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 574,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198546.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Ala454Thr",
"transcript": "NM_001198547.2",
"protein_id": "NP_001185476.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 564,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198547.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Ala454Thr",
"transcript": "ENST00000538587.5",
"protein_id": "ENSP00000443472.1",
"transcript_support_level": 2,
"aa_start": 454,
"aa_end": null,
"aa_length": 564,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538587.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Ala448Thr",
"transcript": "ENST00000590712.5",
"protein_id": "ENSP00000467629.1",
"transcript_support_level": 2,
"aa_start": 448,
"aa_end": null,
"aa_length": 558,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590712.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Ala426Thr",
"transcript": "NM_001198548.1",
"protein_id": "NP_001185477.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 536,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198548.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Ala414Thr",
"transcript": "ENST00000867151.1",
"protein_id": "ENSP00000537210.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 524,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867151.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"transcript": "NM_001353234.2",
"protein_id": "NP_001340163.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 500,
"cds_start": 1168,
"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": "NM_001353234.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1117G>A",
"hgvs_p": "p.Ala373Thr",
"transcript": "NM_001353235.2",
"protein_id": "NP_001340164.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 483,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353235.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Ala350Thr",
"transcript": "NM_001384470.1",
"protein_id": "NP_001371399.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 460,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384470.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Ala309Thr",
"transcript": "NM_001282527.2",
"protein_id": "NP_001269456.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 419,
"cds_start": 925,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282527.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Ala309Thr",
"transcript": "NM_001353237.1",
"protein_id": "NP_001340166.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 419,
"cds_start": 925,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353237.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Ala309Thr",
"transcript": "NM_001384471.1",
"protein_id": "NP_001371400.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 419,
"cds_start": 925,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384471.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Ala277Thr",
"transcript": "NM_001353233.1",
"protein_id": "NP_001340162.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 387,
"cds_start": 829,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353233.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Ala243Thr",
"transcript": "NM_001198549.2",
"protein_id": "NP_001185478.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 353,
"cds_start": 727,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198549.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Ala243Thr",
"transcript": "NM_001384472.1",
"protein_id": "NP_001371401.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 353,
"cds_start": 727,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384472.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOL4",
"gene_hgnc_id": 7870,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Ala243Thr",
"transcript": "ENST00000535384.5",
"protein_id": "ENSP00000445733.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 353,
"cds_start": 727,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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"BS2"
],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}