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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: 19-29702922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=29702922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 29702922,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000323670.14",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "NM_031448.6",
"protein_id": "NP_113636.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 141,
"cds_start": 216,
"cds_end": null,
"cds_length": 426,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": "ENST00000323670.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "ENST00000323670.14",
"protein_id": "ENSP00000313332.9",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 141,
"cds_start": 216,
"cds_end": null,
"cds_length": 426,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": "NM_031448.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "ENST00000592153.5",
"protein_id": "ENSP00000467117.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 107,
"cds_start": 216,
"cds_end": null,
"cds_length": 324,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "ENST00000591243.1",
"protein_id": "ENSP00000467516.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 105,
"cds_start": 216,
"cds_end": null,
"cds_length": 319,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000392276.1",
"protein_id": "ENSP00000376102.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 77,
"cds_start": 24,
"cds_end": null,
"cds_length": 234,
"cdna_start": 153,
"cdna_end": null,
"cdna_length": 1912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "NM_001031726.4",
"protein_id": "NP_001026896.3",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 141,
"cds_start": 216,
"cds_end": null,
"cds_length": 426,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "NM_001256047.2",
"protein_id": "NP_001242976.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 141,
"cds_start": 216,
"cds_end": null,
"cds_length": 426,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "ENST00000623113.3",
"protein_id": "ENSP00000485413.2",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 141,
"cds_start": 216,
"cds_end": null,
"cds_length": 426,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "ENST00000614091.5",
"protein_id": "ENSP00000482097.2",
"transcript_support_level": 4,
"aa_start": 72,
"aa_end": null,
"aa_length": 115,
"cds_start": 216,
"cds_end": null,
"cds_length": 349,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "NM_001256046.3",
"protein_id": "NP_001242975.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 107,
"cds_start": 216,
"cds_end": null,
"cds_length": 324,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "NM_001282929.1",
"protein_id": "NP_001269858.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 77,
"cds_start": 24,
"cds_end": null,
"cds_length": 234,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "NM_001282930.3",
"protein_id": "NP_001269859.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 77,
"cds_start": 24,
"cds_end": null,
"cds_length": 234,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "NM_001282931.3",
"protein_id": "NP_001269860.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 77,
"cds_start": 24,
"cds_end": null,
"cds_length": 234,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "ENST00000392275.1",
"protein_id": "ENSP00000507573.1",
"transcript_support_level": 2,
"aa_start": 8,
"aa_end": null,
"aa_length": 77,
"cds_start": 24,
"cds_end": null,
"cds_length": 234,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Pro126Pro",
"transcript": "XM_024451734.2",
"protein_id": "XP_024307502.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 195,
"cds_start": 378,
"cds_end": null,
"cds_length": 588,
"cdna_start": 6175,
"cdna_end": null,
"cdna_length": 10211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Pro126Pro",
"transcript": "XM_047439496.1",
"protein_id": "XP_047295452.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 195,
"cds_start": 378,
"cds_end": null,
"cds_length": 588,
"cdna_start": 6055,
"cdna_end": null,
"cdna_length": 10091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro",
"transcript": "XM_024451735.2",
"protein_id": "XP_024307503.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 141,
"cds_start": 216,
"cds_end": null,
"cds_length": 426,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 6116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Pro8Pro",
"transcript": "XM_047439497.1",
"protein_id": "XP_047295453.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 77,
"cds_start": 24,
"cds_end": null,
"cds_length": 234,
"cdna_start": 3423,
"cdna_end": null,
"cdna_length": 7459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000342680.5",
"protein_id": "ENSP00000345497.5",
"transcript_support_level": 5,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"hgvs_c": "n.*130G>A",
"hgvs_p": null,
"transcript": "ENST00000342680.5",
"protein_id": "ENSP00000345497.5",
"transcript_support_level": 5,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "C19orf12",
"gene_hgnc_id": 25443,
"dbsnp": "rs202054484",
"frequency_reference_population": 0.0001437248,
"hom_count_reference_population": 1,
"allele_count_reference_population": 232,
"gnomad_exomes_af": 0.000150491,
"gnomad_genomes_af": 0.0000787846,
"gnomad_exomes_ac": 220,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.36,
"phylop100way_prediction": "Benign",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000323670.14",
"gene_symbol": "C19orf12",
"hgnc_id": 25443,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.216G>A",
"hgvs_p": "p.Pro72Pro"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 43,Neurodegeneration with brain iron accumulation 4,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Hereditary spastic paraplegia 43|Neurodegeneration with brain iron accumulation 4|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}