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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: 17-58521149-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58521149&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58521149,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001368771.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.2680G>T",
"hgvs_p": "p.Gly894Trp",
"transcript": "NM_001368771.2",
"protein_id": "NP_001355700.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 996,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000672673.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368771.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.2680G>T",
"hgvs_p": "p.Gly894Trp",
"transcript": "ENST00000672673.2",
"protein_id": "ENSP00000500383.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 996,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001368771.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672673.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Gly376Trp",
"transcript": "ENST00000317268.7",
"protein_id": "ENSP00000321674.3",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 478,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317268.7"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1069G>T",
"hgvs_p": "p.Gly357Trp",
"transcript": "ENST00000317256.10",
"protein_id": "ENSP00000321071.6",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 459,
"cds_start": 1069,
"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": "ENST00000317256.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.*357G>T",
"hgvs_p": null,
"transcript": "ENST00000426861.5",
"protein_id": "ENSP00000402348.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 274,
"cds_start": null,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426861.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "n.1265G>T",
"hgvs_p": null,
"transcript": "ENST00000584488.5",
"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": "ENST00000584488.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1171G>T",
"hgvs_p": "p.Gly391Trp",
"transcript": "NM_001256782.2",
"protein_id": "NP_001243711.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 493,
"cds_start": 1171,
"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": "NM_001256782.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1171G>T",
"hgvs_p": "p.Gly391Trp",
"transcript": "ENST00000457347.6",
"protein_id": "ENSP00000402000.2",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 493,
"cds_start": 1171,
"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": "ENST00000457347.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1171G>T",
"hgvs_p": "p.Gly391Trp",
"transcript": "ENST00000672699.1",
"protein_id": "ENSP00000500355.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 493,
"cds_start": 1171,
"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": "ENST00000672699.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Gly376Trp",
"transcript": "NM_004574.5",
"protein_id": "NP_004565.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 478,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004574.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1105G>T",
"hgvs_p": "p.Gly369Trp",
"transcript": "NM_001368772.2",
"protein_id": "NP_001355701.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 471,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368772.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1102G>T",
"hgvs_p": "p.Gly368Trp",
"transcript": "NM_001198713.2",
"protein_id": "NP_001185642.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 470,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198713.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1102G>T",
"hgvs_p": "p.Gly368Trp",
"transcript": "ENST00000412945.7",
"protein_id": "ENSP00000414779.3",
"transcript_support_level": 2,
"aa_start": 368,
"aa_end": null,
"aa_length": 470,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412945.7"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1069G>T",
"hgvs_p": "p.Gly357Trp",
"transcript": "NM_080416.4",
"protein_id": "NP_536341.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 459,
"cds_start": 1069,
"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": "NM_080416.4"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1069G>T",
"hgvs_p": "p.Gly357Trp",
"transcript": "ENST00000393086.5",
"protein_id": "ENSP00000376801.1",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 459,
"cds_start": 1069,
"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": "ENST00000393086.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp",
"transcript": "NM_001363803.2",
"protein_id": "NP_001350732.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 379,
"cds_start": 829,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363803.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp",
"transcript": "ENST00000580844.5",
"protein_id": "ENSP00000462727.1",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 379,
"cds_start": 829,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580844.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.829G>T",
"hgvs_p": "p.Gly277Trp",
"transcript": "ENST00000579371.5",
"protein_id": "ENSP00000464373.1",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 332,
"cds_start": 829,
"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": "ENST00000579371.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.685G>T",
"hgvs_p": "p.Gly229Trp",
"transcript": "NM_001256822.2",
"protein_id": "NP_001243751.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 331,
"cds_start": 685,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256822.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.685G>T",
"hgvs_p": "p.Gly229Trp",
"transcript": "ENST00000583114.5",
"protein_id": "ENSP00000463768.1",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 331,
"cds_start": 685,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583114.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1171G>T",
"hgvs_p": "p.Gly391Trp",
"transcript": "XM_047436309.1",
"protein_id": "XP_047292265.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 493,
"cds_start": 1171,
"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_047436309.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN4",
"gene_hgnc_id": 9165,
"hgvs_c": "c.1141G>T",
"hgvs_p": "p.Gly381Trp",
"transcript": "XM_006721949.4",
"protein_id": "XP_006722012.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 483,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
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"effects": [
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}