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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: 2-178594477-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178594477&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178594477,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000589042.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 296,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.58017G>C",
"hgvs_p": "p.Leu19339Phe",
"transcript": "NM_001267550.2",
"protein_id": "NP_001254479.2",
"transcript_support_level": null,
"aa_start": 19339,
"aa_end": null,
"aa_length": 35991,
"cds_start": 58017,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 58242,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "ENST00000589042.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 296,
"exon_rank_end": null,
"exon_count": 363,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.58017G>C",
"hgvs_p": "p.Leu19339Phe",
"transcript": "ENST00000589042.5",
"protein_id": "ENSP00000467141.1",
"transcript_support_level": 5,
"aa_start": 19339,
"aa_end": null,
"aa_length": 35991,
"cds_start": 58017,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 58242,
"cdna_end": null,
"cdna_length": 109224,
"mane_select": "NM_001267550.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 294,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.57861G>C",
"hgvs_p": "p.Leu19287Phe",
"transcript": "ENST00000446966.2",
"protein_id": "ENSP00000408004.2",
"transcript_support_level": 1,
"aa_start": 19287,
"aa_end": null,
"aa_length": 35939,
"cds_start": 57861,
"cds_end": null,
"cds_length": 107820,
"cdna_start": 58086,
"cdna_end": null,
"cdna_length": 109068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 294,
"exon_rank_end": null,
"exon_count": 361,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.57741G>C",
"hgvs_p": "p.Leu19247Phe",
"transcript": "ENST00000436599.2",
"protein_id": "ENSP00000405517.2",
"transcript_support_level": 1,
"aa_start": 19247,
"aa_end": null,
"aa_length": 35899,
"cds_start": 57741,
"cds_end": null,
"cds_length": 107700,
"cdna_start": 57966,
"cdna_end": null,
"cdna_length": 108948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 289,
"exon_rank_end": null,
"exon_count": 356,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.57459G>C",
"hgvs_p": "p.Leu19153Phe",
"transcript": "ENST00000426232.6",
"protein_id": "ENSP00000392336.2",
"transcript_support_level": 1,
"aa_start": 19153,
"aa_end": null,
"aa_length": 35805,
"cds_start": 57459,
"cds_end": null,
"cds_length": 107418,
"cdna_start": 57684,
"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": 12,
"intron_rank_end": null,
"gene_symbol": "TTN-AS1",
"gene_hgnc_id": 44124,
"hgvs_c": "n.3365-3119C>G",
"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": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 298,
"exon_rank_end": null,
"exon_count": 365,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.58017G>C",
"hgvs_p": "p.Leu19339Phe",
"transcript": "ENST00000412264.2",
"protein_id": "ENSP00000394672.2",
"transcript_support_level": 3,
"aa_start": 19339,
"aa_end": null,
"aa_length": 35991,
"cds_start": 58017,
"cds_end": null,
"cds_length": 107976,
"cdna_start": 58506,
"cdna_end": null,
"cdna_length": 109488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 295,
"exon_rank_end": null,
"exon_count": 362,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.57933G>C",
"hgvs_p": "p.Leu19311Phe",
"transcript": "ENST00000425332.3",
"protein_id": "ENSP00000396805.3",
"transcript_support_level": 5,
"aa_start": 19311,
"aa_end": null,
"aa_length": 35963,
"cds_start": 57933,
"cds_end": null,
"cds_length": 107892,
"cdna_start": 58158,
"cdna_end": null,
"cdna_length": 109140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 293,
"exon_rank_end": null,
"exon_count": 360,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.57603G>C",
"hgvs_p": "p.Leu19201Phe",
"transcript": "ENST00000715174.1",
"protein_id": "ENSP00000520370.1",
"transcript_support_level": null,
"aa_start": 19201,
"aa_end": null,
"aa_length": 35853,
"cds_start": 57603,
"cds_end": null,
"cds_length": 107562,
"cdna_start": 57828,
"cdna_end": null,
"cdna_length": 108810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 246,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53094G>C",
"hgvs_p": "p.Leu17698Phe",
"transcript": "NM_001256850.1",
"protein_id": "NP_001243779.1",
"transcript_support_level": null,
"aa_start": 17698,
"aa_end": null,
"aa_length": 34350,
"cds_start": 53094,
"cds_end": null,
"cds_length": 103053,
"cdna_start": 53319,
"cdna_end": null,
"cdna_length": 104301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 246,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53094G>C",
"hgvs_p": "p.Leu17698Phe",
"transcript": "ENST00000591111.5",
"protein_id": "ENSP00000465570.1",
"transcript_support_level": 5,
"aa_start": 17698,
"aa_end": null,
"aa_length": 34350,
"cds_start": 53094,
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"cdna_start": 53319,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 245,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.50313G>C",
"hgvs_p": "p.Leu16771Phe",
"transcript": "NM_133378.4",
"protein_id": "NP_596869.4",
"transcript_support_level": null,
"aa_start": 16771,
"aa_end": null,
"aa_length": 33423,
"cds_start": 50313,
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"cdna_start": 50538,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 245,
"exon_rank_end": null,
"exon_count": 312,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.50313G>C",
"hgvs_p": "p.Leu16771Phe",
"transcript": "ENST00000342992.11",
"protein_id": "ENSP00000343764.6",
"transcript_support_level": 5,
"aa_start": 16771,
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"cds_start": 50313,
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"cdna_start": 50538,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31398G>C",
"hgvs_p": "p.Leu10466Phe",
"transcript": "NM_133437.4",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31398G>C",
"hgvs_p": "p.Leu10466Phe",
"transcript": "ENST00000342175.12",
"protein_id": "ENSP00000340554.6",
"transcript_support_level": 5,
"aa_start": 10466,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 125,
"exon_rank_end": null,
"exon_count": 192,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31197G>C",
"hgvs_p": "p.Leu10399Phe",
"transcript": "NM_133432.3",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.31197G>C",
"hgvs_p": "p.Leu10399Phe",
"transcript": "ENST00000359218.11",
"protein_id": "ENSP00000352154.5",
"transcript_support_level": 5,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 124,
"exon_rank_end": null,
"exon_count": 191,
"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.30822G>C",
"hgvs_p": "p.Leu10274Phe",
"transcript": "NM_003319.4",
"protein_id": "NP_003310.4",
"transcript_support_level": null,
"aa_start": 10274,
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"aa_length": 26926,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 124,
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"intron_rank": null,
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"gene_symbol": "TTN",
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"hgvs_c": "c.30822G>C",
"hgvs_p": "p.Leu10274Phe",
"transcript": "ENST00000460472.6",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 292,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.56910G>C",
"hgvs_p": "p.Leu18970Phe",
"transcript": "XM_017004819.1",
"protein_id": "XP_016860308.1",
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},
{
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"consequences": [
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],
"exon_rank": 250,
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"intron_rank": null,
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"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.53022G>C",
"hgvs_p": "p.Leu17674Phe",
"transcript": "XM_047445660.1",
"protein_id": "XP_047301616.1",
"transcript_support_level": null,
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"cds_start": 53022,
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"cdna_start": 53247,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 246,
"exon_rank_end": null,
"exon_count": 313,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTN",
"gene_hgnc_id": 12403,
"hgvs_c": "c.52686G>C",
"hgvs_p": "p.Leu17562Phe",
"transcript": "XM_047445661.1",
"protein_id": "XP_047301617.1",
"transcript_support_level": null,
"aa_start": 17562,
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"aa_length": 34214,
"cds_start": 52686,
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"cdna_start": 52911,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "L",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 243,
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"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000589042.5",
"gene_symbol": "TTN",
"hgnc_id": 12403,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.58017G>C",
"hgvs_p": "p.Leu19339Phe"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000419746.5",
"gene_symbol": "TTN-AS1",
"hgnc_id": 44124,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3365-3119C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:7 LB:1",
"phenotype_combined": "not specified|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}