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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: 19-10546871-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10546871&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10546871,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032885.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Pro176Thr",
"transcript": "NM_032885.6",
"protein_id": "NP_116274.3",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 474,
"cds_start": 526,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309469.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032885.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Pro176Thr",
"transcript": "ENST00000309469.9",
"protein_id": "ENSP00000311318.3",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 474,
"cds_start": 526,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032885.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309469.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "n.526C>A",
"hgvs_p": null,
"transcript": "ENST00000588857.5",
"protein_id": "ENSP00000468290.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588857.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "n.494-318C>A",
"hgvs_p": null,
"transcript": "ENST00000588667.5",
"protein_id": "ENSP00000467407.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588667.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "n.121+1741C>A",
"hgvs_p": null,
"transcript": "ENST00000589753.1",
"protein_id": "ENSP00000466439.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589753.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.595C>A",
"hgvs_p": "p.Pro199Thr",
"transcript": "ENST00000908551.1",
"protein_id": "ENSP00000578610.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 497,
"cds_start": 595,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908551.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Pro176Thr",
"transcript": "ENST00000908547.1",
"protein_id": "ENSP00000578606.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 459,
"cds_start": 526,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908547.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Pro148Thr",
"transcript": "ENST00000908549.1",
"protein_id": "ENSP00000578608.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 446,
"cds_start": 442,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908549.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Pro176Thr",
"transcript": "ENST00000908550.1",
"protein_id": "ENSP00000578609.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 441,
"cds_start": 526,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908550.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Pro176Thr",
"transcript": "ENST00000923591.1",
"protein_id": "ENSP00000593650.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 440,
"cds_start": 526,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923591.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Pro176Thr",
"transcript": "ENST00000947911.1",
"protein_id": "ENSP00000617970.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 433,
"cds_start": 526,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947911.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.337C>A",
"hgvs_p": "p.Pro113Thr",
"transcript": "NM_001281504.2",
"protein_id": "NP_001268433.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 411,
"cds_start": 337,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281504.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.268C>A",
"hgvs_p": "p.Pro90Thr",
"transcript": "ENST00000923590.1",
"protein_id": "ENSP00000593649.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 388,
"cds_start": 268,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923590.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.424C>A",
"hgvs_p": "p.Pro142Thr",
"transcript": "ENST00000586477.1",
"protein_id": "ENSP00000467223.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 208,
"cds_start": 424,
"cds_end": null,
"cds_length": 628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586477.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.43C>A",
"hgvs_p": "p.Pro15Thr",
"transcript": "ENST00000587256.1",
"protein_id": "ENSP00000468780.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 201,
"cds_start": 43,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587256.1"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.494-245C>A",
"hgvs_p": null,
"transcript": "ENST00000947912.1",
"protein_id": "ENSP00000617971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947912.1"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.562+1741C>A",
"hgvs_p": null,
"transcript": "ENST00000923589.1",
"protein_id": "ENSP00000593648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": null,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923589.1"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.493+1741C>A",
"hgvs_p": null,
"transcript": "ENST00000908548.1",
"protein_id": "ENSP00000578607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908548.1"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.494-318C>A",
"hgvs_p": null,
"transcript": "ENST00000908552.1",
"protein_id": "ENSP00000578611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908552.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.409+1741C>A",
"hgvs_p": null,
"transcript": "ENST00000908553.1",
"protein_id": "ENSP00000578612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908553.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.274+1741C>A",
"hgvs_p": null,
"transcript": "ENST00000586863.5",
"protein_id": "ENSP00000465089.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586863.5"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ATG4D",
"gene_hgnc_id": 20789,
"hgvs_c": "c.493+1741C>A",
"hgvs_p": null,
"transcript": "XM_006722927.2",
"protein_id": "XP_006722990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722927.2"
},
{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.55,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}