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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: 21-43058920-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43058920&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CBS",
"hgnc_id": 1550,
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_000071.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "21",
"clinvar_classification": "Likely benign",
"clinvar_disease": " CBS-RELATED, THROMBOTIC,Familial thoracic aortic aneurysm and aortic dissection,HYPERHOMOCYSTEINEMIA",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1340000033378601,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000071.3",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398165.8",
"protein_coding": true,
"protein_id": "NP_000062.1",
"strand": false,
"transcript": "NM_000071.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000398165.8",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000071.3",
"protein_coding": true,
"protein_id": "ENSP00000381231.4",
"strand": false,
"transcript": "ENST00000398165.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000352178.9",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344460.5",
"strand": false,
"transcript": "ENST00000352178.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000359624.7",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352643.3",
"strand": false,
"transcript": "ENST00000359624.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000398158.5",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381225.1",
"strand": false,
"transcript": "ENST00000398158.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000461686.5",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "n.1583C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461686.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886719.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556778.1",
"strand": false,
"transcript": "ENST00000886719.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000939300.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609359.1",
"strand": false,
"transcript": "ENST00000939300.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 634,
"aa_ref": "T",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1521,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000939297.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1521C>G",
"hgvs_p": "p.Thr507Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609356.1",
"strand": false,
"transcript": "ENST00000939297.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 626,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000939292.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609351.1",
"strand": false,
"transcript": "ENST00000939292.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 623,
"aa_ref": "T",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000886706.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1488C>G",
"hgvs_p": "p.Thr496Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556765.1",
"strand": false,
"transcript": "ENST00000886706.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 623,
"aa_ref": "T",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000961049.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1488C>G",
"hgvs_p": "p.Thr496Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631108.1",
"strand": false,
"transcript": "ENST00000961049.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 578,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1353,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000939295.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1353C>G",
"hgvs_p": "p.Thr451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609354.1",
"strand": false,
"transcript": "ENST00000939295.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1344,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000961046.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1344C>G",
"hgvs_p": "p.Thr448Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631105.1",
"strand": false,
"transcript": "ENST00000961046.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "T",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1326,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886729.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1326C>G",
"hgvs_p": "p.Thr442Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556788.1",
"strand": false,
"transcript": "ENST00000886729.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 563,
"aa_ref": "T",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1308,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000939289.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Thr436Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609348.1",
"strand": false,
"transcript": "ENST00000939289.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2582,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001178008.3",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171479.1",
"strand": false,
"transcript": "NM_001178008.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001178009.3",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171480.1",
"strand": false,
"transcript": "NM_001178009.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001320298.2",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307227.1",
"strand": false,
"transcript": "NM_001320298.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000886703.1",
"gene_hgnc_id": 1550,
"gene_symbol": "CBS",
"hgvs_c": "c.1272C>G",
"hgvs_p": "p.Thr424Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556762.1",
"strand": false,
"transcript": "ENST00000886703.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000886704.1",
"gene_hgnc_id": 1550,
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"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",
"phylop100way_prediction": "Benign",
"phylop100way_score": -7.833,
"pos": 43058920,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.134,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000071.3"
}
]
}