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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: 19-35295965-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35295965&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MAG",
"hgnc_id": 6783,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_002361.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 379797,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "Hereditary spastic paraplegia 75,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4300000071525574,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1881,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002361.4",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392213.8",
"protein_coding": true,
"protein_id": "NP_002352.1",
"strand": true,
"transcript": "NM_002361.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1881,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000392213.8",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002361.4",
"protein_coding": true,
"protein_id": "ENSP00000376048.2",
"strand": true,
"transcript": "ENST00000392213.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 601,
"aa_ref": "S",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1806,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000537831.2",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Ser108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440695.1",
"strand": true,
"transcript": "ENST00000537831.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 582,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1749,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000361922.8",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355234.4",
"strand": true,
"transcript": "ENST00000361922.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 637,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 532,
"cds_end": null,
"cds_length": 1914,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872034.1",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542093.1",
"strand": true,
"transcript": "ENST00000872034.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 632,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1899,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872032.1",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542091.1",
"strand": true,
"transcript": "ENST00000872032.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4974,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1881,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872031.1",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542090.1",
"strand": true,
"transcript": "ENST00000872031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 476,
"cds_end": null,
"cds_length": 1881,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872033.1",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542092.1",
"strand": true,
"transcript": "ENST00000872033.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 542,
"cds_end": null,
"cds_length": 1881,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872036.1",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542095.1",
"strand": true,
"transcript": "ENST00000872036.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1881,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918346.1",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588405.1",
"strand": true,
"transcript": "ENST00000918346.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 626,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1881,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946899.1",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616958.1",
"strand": true,
"transcript": "ENST00000946899.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 601,
"aa_ref": "S",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1806,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001199216.2",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Ser108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186145.1",
"strand": true,
"transcript": "NM_001199216.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 582,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 522,
"cds_end": null,
"cds_length": 1749,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_080600.3",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542167.1",
"strand": true,
"transcript": "NM_080600.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 539,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1620,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872035.1",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542094.1",
"strand": true,
"transcript": "ENST00000872035.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 157,
"aa_ref": "S",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": 509,
"cds_end": null,
"cds_length": 475,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000595791.5",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Ser133Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473125.1",
"strand": true,
"transcript": "ENST00000595791.5",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 130,
"aa_ref": "S",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": 489,
"cds_end": null,
"cds_length": 394,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000600291.5",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.324C>T",
"hgvs_p": "p.Ser108Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470772.1",
"strand": true,
"transcript": "ENST00000600291.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 58,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": null,
"cds_end": null,
"cds_length": 177,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597035.5",
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"hgvs_c": "c.176+223C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473245.1",
"strand": true,
"transcript": "ENST00000597035.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2301600",
"effect": "synonymous_variant",
"frequency_reference_population": 0.23878434,
"gene_hgnc_id": 6783,
"gene_symbol": "MAG",
"gnomad_exomes_ac": 347399,
"gnomad_exomes_af": 0.24152,
"gnomad_exomes_homalt": 44328,
"gnomad_genomes_ac": 32398,
"gnomad_genomes_af": 0.212926,
"gnomad_genomes_homalt": 3910,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 48238,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Hereditary spastic paraplegia 75|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.368,
"pos": 35295965,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002361.4"
}
]
}