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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: 22-33650524-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=33650524&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 33650524,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000397394.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_133642.5",
"protein_id": "NP_598397.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "ENST00000397394.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000397394.8",
"protein_id": "ENSP00000380549.2",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "NM_133642.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000354992.7",
"protein_id": "ENSP00000347088.2",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000402320.6",
"protein_id": "ENSP00000385223.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 704,
"cds_start": 251,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001362949.2",
"protein_id": "NP_001349878.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 4538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001362951.2",
"protein_id": "NP_001349880.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001362953.2",
"protein_id": "NP_001349882.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001378624.1",
"protein_id": "NP_001365553.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001378625.1",
"protein_id": "NP_001365554.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001378626.1",
"protein_id": "NP_001365555.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_004737.7",
"protein_id": "NP_004728.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000413114.6",
"protein_id": "ENSP00000415546.2",
"transcript_support_level": 4,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000675416.1",
"protein_id": "ENSP00000502826.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000676070.1",
"protein_id": "ENSP00000502152.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000676132.1",
"protein_id": "ENSP00000501854.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000676370.1",
"protein_id": "ENSP00000502238.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 756,
"cds_start": 251,
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"cdna_start": 453,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000674668.1",
"protein_id": "ENSP00000502103.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 714,
"cds_start": 251,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001378627.1",
"protein_id": "NP_001365556.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 707,
"cds_start": 251,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001378628.1",
"protein_id": "NP_001365557.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
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"cds_start": 251,
"cds_end": null,
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"cdna_start": 815,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "ENST00000674789.1",
"protein_id": "ENSP00000501941.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 707,
"cds_start": 251,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr",
"transcript": "NM_001378629.1",
"protein_id": "NP_001365558.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 704,
"cds_start": 251,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
"transcript": "ENST00000674999.1",
"protein_id": "ENSP00000502711.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 688,
"cds_start": 47,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Ser16Thr",
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"gnomad_exomes_af": 0.00100563,
"gnomad_genomes_af": 0.000623474,
"gnomad_exomes_ac": 1468,
"gnomad_genomes_ac": 95,
"gnomad_exomes_homalt": 29,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005949527025222778,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.0859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.157,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000397394.8",
"gene_symbol": "LARGE1",
"hgnc_id": 6511,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.251G>C",
"hgvs_p": "p.Ser84Thr"
}
],
"clinvar_disease": " type A6,LARGE1-related disorder,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy type B6,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"phenotype_combined": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6|Muscular dystrophy-dystroglycanopathy type B6|not specified|LARGE1-related disorder|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}