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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: 22-41992666-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41992666&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41992666,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000644076.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2262G>C",
"hgvs_p": "p.Gln754His",
"transcript": "NM_001363845.2",
"protein_id": "NP_001350774.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 856,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "ENST00000644076.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2262G>C",
"hgvs_p": "p.Gln754His",
"transcript": "ENST00000644076.2",
"protein_id": "ENSP00000494051.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 856,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "NM_001363845.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.768G>C",
"hgvs_p": "p.Gln256His",
"transcript": "ENST00000396426.7",
"protein_id": "ENSP00000379704.3",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 358,
"cds_start": 768,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.768G>C",
"hgvs_p": "p.Gln256His",
"transcript": "ENST00000396425.8",
"protein_id": "ENSP00000379703.3",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 350,
"cds_start": 768,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "n.*221G>C",
"hgvs_p": null,
"transcript": "ENST00000396417.2",
"protein_id": "ENSP00000379695.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "n.*221G>C",
"hgvs_p": null,
"transcript": "ENST00000396417.2",
"protein_id": "ENSP00000379695.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2262G>C",
"hgvs_p": "p.Gln754His",
"transcript": "NM_001389668.1",
"protein_id": "NP_001376597.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 848,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 6266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2133G>C",
"hgvs_p": "p.Gln711His",
"transcript": "NM_001389669.1",
"protein_id": "NP_001376598.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 813,
"cds_start": 2133,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2070G>C",
"hgvs_p": "p.Gln690His",
"transcript": "NM_001389670.1",
"protein_id": "NP_001376599.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 792,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.2070G>C",
"hgvs_p": "p.Gln690His",
"transcript": "NM_001389671.1",
"protein_id": "NP_001376600.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 784,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.1941G>C",
"hgvs_p": "p.Gln647His",
"transcript": "NM_001389672.1",
"protein_id": "NP_001376601.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 749,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.1941G>C",
"hgvs_p": "p.Gln647His",
"transcript": "NM_001389673.1",
"protein_id": "NP_001376602.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 741,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.768G>C",
"hgvs_p": "p.Gln256His",
"transcript": "NM_145733.3",
"protein_id": "NP_663786.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 358,
"cds_start": 768,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.768G>C",
"hgvs_p": "p.Gln256His",
"transcript": "NM_019106.6",
"protein_id": "NP_061979.3",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 350,
"cds_start": 768,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.729G>C",
"hgvs_p": "p.Gln243His",
"transcript": "NM_001389674.1",
"protein_id": "NP_001376603.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 345,
"cds_start": 729,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.729G>C",
"hgvs_p": "p.Gln243His",
"transcript": "NM_001389675.1",
"protein_id": "NP_001376604.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 337,
"cds_start": 729,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Gln213His",
"transcript": "NM_001389676.1",
"protein_id": "NP_001376605.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 315,
"cds_start": 639,
"cds_end": null,
"cds_length": 948,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.639G>C",
"hgvs_p": "p.Gln213His",
"transcript": "NM_001389677.1",
"protein_id": "NP_001376606.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 307,
"cds_start": 639,
"cds_end": null,
"cds_length": 924,
"cdna_start": 926,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.600G>C",
"hgvs_p": "p.Gln200His",
"transcript": "NM_001389678.1",
"protein_id": "NP_001376607.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 294,
"cds_start": 600,
"cds_end": null,
"cds_length": 885,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.576G>C",
"hgvs_p": "p.Gln192His",
"transcript": "ENST00000406029.5",
"protein_id": "ENSP00000383956.1",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 294,
"cds_start": 576,
"cds_end": null,
"cds_length": 885,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN3",
"gene_hgnc_id": 10750,
"hgvs_c": "c.576G>C",
"hgvs_p": "p.Gln192His",
"transcript": "NM_001389679.1",
"protein_id": "NP_001376608.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 286,
"cds_start": 576,
"cds_end": null,
"cds_length": 861,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301540",
"gene_hgnc_id": null,
"hgvs_c": "n.105-1214C>G",
"hgvs_p": null,
"transcript": "ENST00000779595.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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],
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"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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{
"score": 2,
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}