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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: 19-43913925-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43913925&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43913925,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000269973.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "NM_003425.4",
"protein_id": "NP_003416.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": "ENST00000269973.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "ENST00000269973.10",
"protein_id": "ENSP00000269973.4",
"transcript_support_level": 2,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": "NM_003425.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "ENST00000589703.5",
"protein_id": "ENSP00000468579.1",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "ENST00000615985.4",
"protein_id": "ENSP00000481895.1",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_011527267.2",
"protein_id": "XP_011525569.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2708,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_011527269.2",
"protein_id": "XP_011525571.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_011527271.2",
"protein_id": "XP_011525573.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_011527273.2",
"protein_id": "XP_011525575.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_017027217.2",
"protein_id": "XP_016882706.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_017027218.2",
"protein_id": "XP_016882707.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_017027220.3",
"protein_id": "XP_016882709.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_017027222.2",
"protein_id": "XP_016882711.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
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"cds_length": 2049,
"cdna_start": 2744,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_017027224.3",
"protein_id": "XP_016882713.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
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"cdna_start": 2658,
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"cdna_length": 3959,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_017027225.3",
"protein_id": "XP_016882714.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_017027226.3",
"protein_id": "XP_016882715.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
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"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_017027227.3",
"protein_id": "XP_016882716.1",
"transcript_support_level": null,
"aa_start": 504,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_047439317.1",
"protein_id": "XP_047295273.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
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"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_047439318.1",
"protein_id": "XP_047295274.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
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"cdna_start": 2860,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_047439319.1",
"protein_id": "XP_047295275.1",
"transcript_support_level": null,
"aa_start": 504,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_047439320.1",
"protein_id": "XP_047295276.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_047439321.1",
"protein_id": "XP_047295277.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
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"cds_start": 1511,
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"cdna_start": 2525,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Lys",
"transcript": "XM_047439322.1",
"protein_id": "XP_047295278.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 682,
"cds_start": 1511,
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"cdna_start": 2554,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
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"hgvs_p": "p.Arg504Lys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000586247.4",
"gene_symbol": "ZNF45-AS1",
"hgnc_id": 55308,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.280-11217C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}