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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: 19-1506076-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1506076&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAMTSL5",
"hgnc_id": 27912,
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001367197.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 103,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1449,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0833980143070221,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_213604.3",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1355G>A",
"hgvs_p": "p.Arg452Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000330475.9",
"protein_coding": true,
"protein_id": "NP_998769.2",
"strand": false,
"transcript": "NM_213604.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000330475.9",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1355G>A",
"hgvs_p": "p.Arg452Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213604.3",
"protein_coding": true,
"protein_id": "ENSP00000327608.3",
"strand": false,
"transcript": "ENST00000330475.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000585700.5",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "n.1353G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000585700.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000590440.5",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "n.1393G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000590440.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 481,
"aa_ref": "R",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1385,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001367197.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1385G>A",
"hgvs_p": "p.Arg462Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354126.1",
"strand": false,
"transcript": "NM_001367197.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 447,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000964292.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634351.1",
"strand": false,
"transcript": "ENST00000964292.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 485,
"aa_ref": "R",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1458,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011527961.2",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526263.1",
"strand": false,
"transcript": "XM_011527961.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047438751.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294707.1",
"strand": false,
"transcript": "XM_047438751.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 471,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017026745.2",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1355G>A",
"hgvs_p": "p.Arg452Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882234.1",
"strand": false,
"transcript": "XM_017026745.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047438752.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294708.1",
"strand": false,
"transcript": "XM_047438752.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047438753.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294709.1",
"strand": false,
"transcript": "XM_047438753.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047438754.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294710.1",
"strand": false,
"transcript": "XM_047438754.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 240,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 723,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047438755.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294711.1",
"strand": false,
"transcript": "XM_047438755.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 240,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 723,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047438756.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294712.1",
"strand": false,
"transcript": "XM_047438756.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 240,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 723,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047438757.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294713.1",
"strand": false,
"transcript": "XM_047438757.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 240,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 723,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047438758.1",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294714.1",
"strand": false,
"transcript": "XM_047438758.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395467.6",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "c.*186G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378850.2",
"strand": true,
"transcript": "ENST00000395467.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 341,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591077.2",
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"hgvs_c": "n.-81G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000591077.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200991237",
"effect": "missense_variant",
"frequency_reference_population": 0.00006448277,
"gene_hgnc_id": 27912,
"gene_symbol": "ADAMTSL5",
"gnomad_exomes_ac": 95,
"gnomad_exomes_af": 0.0000657381,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000525631,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.386,
"pos": 1506076,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.041,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001367197.1"
}
]
}