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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: 1-1294754-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1294754&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1294754,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_030649.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1876G>T",
"hgvs_p": "p.Gly626Cys",
"transcript": "NM_030649.3",
"protein_id": "NP_085152.2",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 834,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354700.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030649.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1876G>T",
"hgvs_p": "p.Gly626Cys",
"transcript": "ENST00000354700.10",
"protein_id": "ENSP00000346733.5",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 834,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030649.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354700.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1688-126G>T",
"hgvs_p": null,
"transcript": "ENST00000353662.4",
"protein_id": "ENSP00000321139.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": null,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353662.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.1402G>T",
"hgvs_p": null,
"transcript": "ENST00000467278.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000467278.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "n.3553-126G>T",
"hgvs_p": null,
"transcript": "ENST00000492936.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000492936.5"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.2113G>T",
"hgvs_p": "p.Gly705Cys",
"transcript": "ENST00000969101.1",
"protein_id": "ENSP00000639160.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 913,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969101.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1939G>T",
"hgvs_p": "p.Gly647Cys",
"transcript": "ENST00000969106.1",
"protein_id": "ENSP00000639165.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 855,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969106.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1936G>T",
"hgvs_p": "p.Gly646Cys",
"transcript": "ENST00000969105.1",
"protein_id": "ENSP00000639164.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 854,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969105.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1924G>T",
"hgvs_p": "p.Gly642Cys",
"transcript": "ENST00000892720.1",
"protein_id": "ENSP00000562779.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 850,
"cds_start": 1924,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892720.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1906G>T",
"hgvs_p": "p.Gly636Cys",
"transcript": "ENST00000969102.1",
"protein_id": "ENSP00000639161.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 844,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969102.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1864G>T",
"hgvs_p": "p.Gly622Cys",
"transcript": "ENST00000892719.1",
"protein_id": "ENSP00000562778.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 830,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892719.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Gly613Cys",
"transcript": "ENST00000969109.1",
"protein_id": "ENSP00000639168.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 821,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969109.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1834G>T",
"hgvs_p": "p.Gly612Cys",
"transcript": "ENST00000969103.1",
"protein_id": "ENSP00000639162.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 820,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969103.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1810G>T",
"hgvs_p": "p.Gly604Cys",
"transcript": "ENST00000969104.1",
"protein_id": "ENSP00000639163.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 812,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969104.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1780G>T",
"hgvs_p": "p.Gly594Cys",
"transcript": "ENST00000969099.1",
"protein_id": "ENSP00000639158.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 802,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969099.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1768G>T",
"hgvs_p": "p.Gly590Cys",
"transcript": "ENST00000969110.1",
"protein_id": "ENSP00000639169.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 798,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969110.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1702G>T",
"hgvs_p": "p.Gly568Cys",
"transcript": "ENST00000969108.1",
"protein_id": "ENSP00000639167.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 776,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969108.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1906G>T",
"hgvs_p": "p.Gly636Cys",
"transcript": "XM_011540606.3",
"protein_id": "XP_011538908.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 844,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540606.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1906G>T",
"hgvs_p": "p.Gly636Cys",
"transcript": "XM_011540607.2",
"protein_id": "XP_011538909.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 844,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540607.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1876G>T",
"hgvs_p": "p.Gly626Cys",
"transcript": "XM_024452993.2",
"protein_id": "XP_024308761.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 834,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452993.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.1810G>T",
"hgvs_p": "p.Gly604Cys",
"transcript": "XM_011540608.3",
"protein_id": "XP_011538910.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 812,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540608.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP3",
"gene_hgnc_id": 16754,
"hgvs_c": "c.853G>T",
"hgvs_p": "p.Gly285Cys",
"transcript": "XM_005244717.4",
"protein_id": "XP_005244774.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 493,
"cds_start": 853,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244717.4"
},
{
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}