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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: 11-61951928-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61951928&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61951928,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000378043.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Leu41Pro",
"transcript": "NM_004183.4",
"protein_id": "NP_004174.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 585,
"cds_start": 122,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": "ENST00000378043.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Leu41Pro",
"transcript": "ENST00000378043.9",
"protein_id": "ENSP00000367282.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 585,
"cds_start": 122,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": "NM_004183.4",
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-29+1501T>C",
"hgvs_p": null,
"transcript": "ENST00000449131.6",
"protein_id": "ENSP00000399709.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": -4,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Leu41Pro",
"transcript": "NM_001440571.1",
"protein_id": "NP_001427500.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 664,
"cds_start": 122,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Leu41Pro",
"transcript": "NM_001440572.1",
"protein_id": "NP_001427501.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 637,
"cds_start": 122,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Leu41Pro",
"transcript": "NM_001440573.1",
"protein_id": "NP_001427502.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 613,
"cds_start": 122,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Leu41Pro",
"transcript": "NM_001363592.2",
"protein_id": "NP_001350521.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 435,
"cds_start": 122,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Leu41Pro",
"transcript": "XM_005274221.5",
"protein_id": "XP_005274278.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 270,
"cds_start": 122,
"cds_end": null,
"cds_length": 813,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 4618,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.122T>C",
"hgvs_p": null,
"transcript": "ENST00000524926.5",
"protein_id": "ENSP00000432681.1",
"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": 2404,
"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": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.230T>C",
"hgvs_p": null,
"transcript": "ENST00000533521.5",
"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": 1128,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.235T>C",
"hgvs_p": null,
"transcript": "NR_134580.2",
"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": 2413,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-29+1501T>C",
"hgvs_p": null,
"transcript": "NM_001139443.3",
"protein_id": "NP_001132915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": -4,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3232,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-29+1501T>C",
"hgvs_p": null,
"transcript": "NM_001440574.1",
"protein_id": "NP_001427503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3151,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-29+1501T>C",
"hgvs_p": null,
"transcript": "NM_001440575.1",
"protein_id": "NP_001427504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": -4,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3079,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-29+1501T>C",
"hgvs_p": null,
"transcript": "NM_001440576.1",
"protein_id": "NP_001427505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2998,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-29+1501T>C",
"hgvs_p": null,
"transcript": "NM_001300787.2",
"protein_id": "NP_001287716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2022,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-29+1501T>C",
"hgvs_p": null,
"transcript": "NM_001300786.2",
"protein_id": "NP_001287715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1941,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "c.-212+1501T>C",
"hgvs_p": null,
"transcript": "ENST00000534553.5",
"protein_id": "ENSP00000431189.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.68+1501T>C",
"hgvs_p": null,
"transcript": "ENST00000524877.5",
"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": 5772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"hgvs_c": "n.75+1501T>C",
"hgvs_p": null,
"transcript": "ENST00000529265.5",
"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": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BEST1",
"gene_hgnc_id": 12703,
"dbsnp": "rs121918288",
"frequency_reference_population": 0.000029125107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000314737,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8522433042526245,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.627,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5513,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.064,
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM1",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000378043.9",
"gene_symbol": "BEST1",
"hgnc_id": 12703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Leu41Pro"
}
],
"clinvar_disease": "Autosomal recessive bestrophinopathy,Retinal dystrophy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1 O:1",
"phenotype_combined": "Autosomal recessive bestrophinopathy|not provided|Retinal dystrophy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}