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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: 11-1938423-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1938423&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1938423,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000278317.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.723-15G>A",
"hgvs_p": null,
"transcript": "NM_006757.4",
"protein_id": "NP_006748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": "ENST00000278317.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.723-15G>A",
"hgvs_p": null,
"transcript": "ENST00000278317.11",
"protein_id": "ENSP00000278317.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": "NM_006757.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.717-15G>A",
"hgvs_p": null,
"transcript": "ENST00000381589.7",
"protein_id": "ENSP00000371001.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.699-15G>A",
"hgvs_p": null,
"transcript": "ENST00000381579.7",
"protein_id": "ENSP00000370991.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.756-15G>A",
"hgvs_p": null,
"transcript": "NM_001367846.1",
"protein_id": "NP_001354775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.756-15G>A",
"hgvs_p": null,
"transcript": "ENST00000397301.5",
"protein_id": "ENSP00000380468.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.732-15G>A",
"hgvs_p": null,
"transcript": "NM_001363561.2",
"protein_id": "NP_001350490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.732-15G>A",
"hgvs_p": null,
"transcript": "NM_001367847.1",
"protein_id": "NP_001354776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.732-15G>A",
"hgvs_p": null,
"transcript": "ENST00000381563.8",
"protein_id": "ENSP00000370975.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": -4,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.720-15G>A",
"hgvs_p": null,
"transcript": "NM_001367848.1",
"protein_id": "NP_001354777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": -4,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.717-15G>A",
"hgvs_p": null,
"transcript": "NM_001042781.3",
"protein_id": "NP_001036246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
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"cds_length": 771,
"cdna_start": null,
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"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.717-15G>A",
"hgvs_p": null,
"transcript": "NM_001367842.1",
"protein_id": "NP_001354771.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.717-15G>A",
"hgvs_p": null,
"transcript": "NM_001367843.1",
"protein_id": "NP_001354772.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 256,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.717-15G>A",
"hgvs_p": null,
"transcript": "ENST00000641119.1",
"protein_id": "ENSP00000492914.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.717-15G>A",
"hgvs_p": null,
"transcript": "ENST00000706488.1",
"protein_id": "ENSP00000516410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.711-15G>A",
"hgvs_p": null,
"transcript": "NM_001367849.1",
"protein_id": "NP_001354778.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.699-15G>A",
"hgvs_p": null,
"transcript": "NM_001042780.3",
"protein_id": "NP_001036245.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 250,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.699-15G>A",
"hgvs_p": null,
"transcript": "NM_001042782.3",
"protein_id": "NP_001036247.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.699-15G>A",
"hgvs_p": null,
"transcript": "NM_001297646.2",
"protein_id": "NP_001284575.1",
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.699-15G>A",
"hgvs_p": null,
"transcript": "NM_001367844.1",
"protein_id": "NP_001354773.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.699-15G>A",
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"transcript": "NM_001367845.1",
"protein_id": "NP_001354774.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.699-15G>A",
"hgvs_p": null,
"transcript": "ENST00000381558.6",
"protein_id": "ENSP00000370970.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TNNT3",
"gene_hgnc_id": 11950,
"hgvs_c": "c.699-15G>A",
"hgvs_p": null,
"transcript": "ENST00000641787.1",
"protein_id": "ENSP00000493331.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 250,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 924,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -4,
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"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 2,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000278317.11",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}