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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: 9-12702410-TACAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=12702410&ref=TACAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 12702410,
"ref": "TACAA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000388918.10",
"consequences": [
{
"aa_ref": "NS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRP1",
"gene_hgnc_id": 12450,
"hgvs_c": "c.1057_1060delAACA",
"hgvs_p": "p.Asn353fs",
"transcript": "NM_000550.3",
"protein_id": "NP_000541.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 537,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": "ENST00000388918.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRP1",
"gene_hgnc_id": 12450,
"hgvs_c": "c.1057_1060delAACA",
"hgvs_p": "p.Asn353fs",
"transcript": "ENST00000388918.10",
"protein_id": "ENSP00000373570.4",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 537,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": "NM_000550.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "NS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRP1",
"gene_hgnc_id": 12450,
"hgvs_c": "c.187_190delAACA",
"hgvs_p": "p.Asn63fs",
"transcript": "ENST00000381136.2",
"protein_id": "ENSP00000370528.2",
"transcript_support_level": 2,
"aa_start": 63,
"aa_end": null,
"aa_length": 247,
"cds_start": 187,
"cds_end": null,
"cds_length": 744,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRP1",
"gene_hgnc_id": 12450,
"hgvs_c": "c.852_855delAACA",
"hgvs_p": "p.Thr285fs",
"transcript": "XM_047423841.1",
"protein_id": "XP_047279797.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 315,
"cds_start": 852,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRP1",
"gene_hgnc_id": 12450,
"hgvs_c": "n.294_297delAACA",
"hgvs_p": null,
"transcript": "ENST00000381142.3",
"protein_id": null,
"transcript_support_level": 2,
"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": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TYRP1",
"gene_hgnc_id": 12450,
"hgvs_c": "n.315_318delAACA",
"hgvs_p": null,
"transcript": "ENST00000470909.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LURAP1L-AS1",
"gene_hgnc_id": 49761,
"hgvs_c": "n.273-1788_273-1785delTTGT",
"hgvs_p": null,
"transcript": "ENST00000417638.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LURAP1L-AS1",
"gene_hgnc_id": 49761,
"hgvs_c": "n.193-3059_193-3056delTTGT",
"hgvs_p": null,
"transcript": "ENST00000650458.1",
"protein_id": null,
"transcript_support_level": null,
"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": 994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LURAP1L-AS1",
"gene_hgnc_id": 49761,
"hgvs_c": "n.159-1788_159-1785delTTGT",
"hgvs_p": null,
"transcript": "ENST00000654076.1",
"protein_id": null,
"transcript_support_level": null,
"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": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LURAP1L-AS1",
"gene_hgnc_id": 49761,
"hgvs_c": "n.309+57138_309+57141delTTGT",
"hgvs_p": null,
"transcript": "ENST00000803542.1",
"protein_id": null,
"transcript_support_level": null,
"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": 483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LURAP1L-AS1",
"gene_hgnc_id": 49761,
"hgvs_c": "n.435+2101_435+2104delTTGT",
"hgvs_p": null,
"transcript": "ENST00000803543.1",
"protein_id": null,
"transcript_support_level": null,
"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": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LURAP1L-AS1",
"gene_hgnc_id": 49761,
"hgvs_c": "n.100-13864_100-13861delTTGT",
"hgvs_p": null,
"transcript": "ENST00000803544.1",
"protein_id": null,
"transcript_support_level": null,
"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": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LURAP1L-AS1",
"gene_hgnc_id": 49761,
"hgvs_c": "n.394-1788_394-1785delTTGT",
"hgvs_p": null,
"transcript": "ENST00000803545.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LURAP1L-AS1",
"gene_hgnc_id": 49761,
"hgvs_c": "n.317-1788_317-1785delTTGT",
"hgvs_p": null,
"transcript": "NR_125775.1",
"protein_id": null,
"transcript_support_level": null,
"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": 944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TYRP1",
"gene_hgnc_id": 12450,
"dbsnp": "rs387906562",
"frequency_reference_population": 0.0001016831,
"hom_count_reference_population": 0,
"allele_count_reference_population": 164,
"gnomad_exomes_af": 0.000105423,
"gnomad_genomes_af": 0.0000657592,
"gnomad_exomes_ac": 154,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.828,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000388918.10",
"gene_symbol": "TYRP1",
"hgnc_id": 12450,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1057_1060delAACA",
"hgvs_p": "p.Asn353fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000417638.1",
"gene_symbol": "LURAP1L-AS1",
"hgnc_id": 49761,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.273-1788_273-1785delTTGT",
"hgvs_p": null
}
],
"clinvar_disease": "MELANESIAN BLOND HAIR,Oculocutaneous albinism type 3,TYRP1-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "not provided|TYRP1-related disorder|Oculocutaneous albinism type 3|Oculocutaneous albinism type 3;MELANESIAN BLOND HAIR",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}