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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: 16-1520678-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1520678&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IFT140",
"hgnc_id": 29077,
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_014714.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 57,
"alphamissense_prediction": null,
"alphamissense_score": 0.6239,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Saldino-Mainzer syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7554866075515747,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5232,
"cdna_start": 3910,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_014714.4",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000426508.7",
"protein_coding": true,
"protein_id": "NP_055529.2",
"strand": false,
"transcript": "NM_014714.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5232,
"cdna_start": 3910,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000426508.7",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014714.4",
"protein_coding": true,
"protein_id": "ENSP00000406012.2",
"strand": false,
"transcript": "ENST00000426508.7",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 656,
"aa_ref": "I",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000361339.9",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.1166T>C",
"hgvs_p": "p.Ile389Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354895.5",
"strand": false,
"transcript": "ENST00000361339.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6212,
"cdna_start": 4890,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000889170.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559229.1",
"strand": false,
"transcript": "ENST00000889170.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5950,
"cdna_start": 4633,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000962400.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632459.1",
"strand": false,
"transcript": "ENST00000962400.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 3686,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000962401.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632460.1",
"strand": false,
"transcript": "ENST00000962401.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6348,
"cdna_start": 5026,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000962402.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632461.1",
"strand": false,
"transcript": "ENST00000962402.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1441,
"aa_ref": "I",
"aa_start": 1174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4908,
"cdna_start": 3590,
"cds_end": null,
"cds_length": 4326,
"cds_start": 3521,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000889168.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3521T>C",
"hgvs_p": "p.Ile1174Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559227.1",
"strand": false,
"transcript": "ENST00000889168.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "I",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4892,
"cdna_start": 3572,
"cds_end": null,
"cds_length": 4275,
"cds_start": 3470,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000889169.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3470T>C",
"hgvs_p": "p.Ile1157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559228.1",
"strand": false,
"transcript": "ENST00000889169.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1424,
"aa_ref": "I",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": 3799,
"cds_end": null,
"cds_length": 4275,
"cds_start": 3470,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000914239.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3470T>C",
"hgvs_p": "p.Ile1157Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584298.1",
"strand": false,
"transcript": "ENST00000914239.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5222,
"cdna_start": 3900,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_006720990.4",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721053.1",
"strand": false,
"transcript": "XM_006720990.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6238,
"cdna_start": 4916,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
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],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_006720991.4",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721054.1",
"strand": false,
"transcript": "XM_006720991.4",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 3653,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
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],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047434965.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290921.1",
"strand": false,
"transcript": "XM_047434965.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1462,
"aa_ref": "I",
"aa_start": 1195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5788,
"cdna_start": 4466,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047434966.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290922.1",
"strand": false,
"transcript": "XM_047434966.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 5042,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047434967.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290923.1",
"strand": false,
"transcript": "XM_047434967.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1462,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6375,
"cdna_start": 5053,
"cds_end": null,
"cds_length": 4389,
"cds_start": 3584,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047434968.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290924.1",
"strand": false,
"transcript": "XM_047434968.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1462,
"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5691,
"cdna_start": 4369,
"cds_end": null,
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"consequences": [
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],
"exon_count": 30,
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"exon_rank_end": null,
"feature": "XM_047434969.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3584T>C",
"hgvs_p": "p.Ile1195Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047290925.1",
"strand": false,
"transcript": "XM_047434969.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 3664,
"cds_end": null,
"cds_length": 4143,
"cds_start": 3338,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047434970.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.3338T>C",
"hgvs_p": "p.Ile1113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290926.1",
"strand": false,
"transcript": "XM_047434970.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2666,
"cds_end": null,
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"cds_start": 2609,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011522767.2",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.2609T>C",
"hgvs_p": "p.Ile870Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521069.1",
"strand": false,
"transcript": "XM_011522767.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 857,
"aa_ref": "I",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 2574,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047434971.1",
"gene_hgnc_id": 29077,
"gene_symbol": "IFT140",
"hgvs_c": "c.1769T>C",
"hgvs_p": "p.Ile590Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290927.1",
"strand": false,
"transcript": "XM_047434971.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 673,
"aa_ref": "I",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5746,
"cdna_start": 4424,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
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"feature": "XM_006720992.4",
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]
}