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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: 2-178530494-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178530494&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178530494,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 358,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.106121T>A",
"hgvs_p": "p.Phe35374Tyr",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 35374,
"aa_end": null,
"aa_length": 35991,
"cds_start": 106121,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 106346,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 358,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.106121T>A",
"hgvs_p": "p.Phe35374Tyr",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 35374,
"aa_end": null,
"aa_length": 35991,
"cds_start": 106121,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 106346,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 356,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105965T>A",
"hgvs_p": "p.Phe35322Tyr",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 35322,
"aa_end": null,
"aa_length": 35939,
"cds_start": 105965,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 106190,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 356,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105845T>A",
"hgvs_p": "p.Phe35282Tyr",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 35282,
"aa_end": null,
"aa_length": 35899,
"cds_start": 105845,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 106070,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 351,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105563T>A",
"hgvs_p": "p.Phe35188Tyr",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 35188,
"aa_end": null,
"aa_length": 35805,
"cds_start": 105563,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 105788,
"cdna_end": null,
"cdna_length": 108666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.220-5238A>T",
"hgvs_p": null,
"transcript": "ENST00000419746.5",
"protein_id": null,
"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": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 360,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.106121T>A",
"hgvs_p": "p.Phe35374Tyr",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 35374,
"aa_end": null,
"aa_length": 35991,
"cds_start": 106121,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 106610,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 357,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.106037T>A",
"hgvs_p": "p.Phe35346Tyr",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 35346,
"aa_end": null,
"aa_length": 35963,
"cds_start": 106037,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 106262,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 355,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.105707T>A",
"hgvs_p": "p.Phe35236Tyr",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 35236,
"aa_end": null,
"aa_length": 35853,
"cds_start": 105707,
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"cds_length": 107562,
"cdna_start": 105932,
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"feature": null
},
{
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"aa_alt": "Y",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 308,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.101198T>A",
"hgvs_p": "p.Phe33733Tyr",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 33733,
"aa_end": null,
"aa_length": 34350,
"cds_start": 101198,
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"cdna_start": 101423,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 308,
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"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.101198T>A",
"hgvs_p": "p.Phe33733Tyr",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
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},
{
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],
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"gene_symbol": "TTN",
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"transcript": "NM_133378.4",
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},
{
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"consequences": [
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],
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"gene_symbol": "TTN",
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"transcript": "ENST00000342992.11",
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},
{
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],
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"gene_symbol": "TTN",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.79502T>A",
"hgvs_p": "p.Phe26501Tyr",
"transcript": "ENST00000342175.12",
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},
{
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},
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.79301T>A",
"hgvs_p": "p.Phe26434Tyr",
"transcript": "ENST00000359218.11",
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},
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],
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"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.78926T>A",
"hgvs_p": "p.Phe26309Tyr",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
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},
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},
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],
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"gene_symbol": "TTN",
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"transcript": "XM_017004819.1",
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},
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],
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"gene_symbol": "TTN",
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"hgvs_c": "c.101126T>A",
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"transcript": "XM_047445660.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 308,
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"exon_count": 313,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.100790T>A",
"hgvs_p": "p.Phe33597Tyr",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
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},
{
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"strand": false,
"consequences": [
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"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.931,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.106121T>A",
"hgvs_p": "p.Phe35374Tyr"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000419746.5",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.220-5238A>T",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiovascular phenotype,Dilated cardiomyopathy 1G,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3",
"phenotype_combined": "not specified|not provided|Dilated cardiomyopathy 1G;Autosomal recessive limb-girdle muscular dystrophy type 2J|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}