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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: 19-1506822-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1506822&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1506822,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001367197.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320Lys",
"transcript": "NM_213604.3",
"protein_id": "NP_998769.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 471,
"cds_start": 959,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330475.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213604.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320Lys",
"transcript": "ENST00000330475.9",
"protein_id": "ENSP00000327608.3",
"transcript_support_level": 2,
"aa_start": 320,
"aa_end": null,
"aa_length": 471,
"cds_start": 959,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_213604.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330475.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "n.1037G>A",
"hgvs_p": null,
"transcript": "ENST00000585700.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000585700.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "n.997G>A",
"hgvs_p": null,
"transcript": "ENST00000590440.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000590440.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330Lys",
"transcript": "NM_001367197.1",
"protein_id": "NP_001354126.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 481,
"cds_start": 989,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367197.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320Lys",
"transcript": "ENST00000964292.1",
"protein_id": "ENSP00000634351.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 447,
"cds_start": 959,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964292.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Lys",
"transcript": "ENST00000590090.1",
"protein_id": "ENSP00000466231.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 134,
"cds_start": 323,
"cds_end": null,
"cds_length": 406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590090.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Lys",
"transcript": "ENST00000395467.6",
"protein_id": "ENSP00000378850.2",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 131,
"cds_start": 266,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395467.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.1001G>A",
"hgvs_p": "p.Arg334Lys",
"transcript": "XM_011527961.2",
"protein_id": "XP_011526263.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 485,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527961.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.971G>A",
"hgvs_p": "p.Arg324Lys",
"transcript": "XM_047438751.1",
"protein_id": "XP_047294707.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 475,
"cds_start": 971,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438751.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320Lys",
"transcript": "XM_017026745.2",
"protein_id": "XP_016882234.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 471,
"cds_start": 959,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026745.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298Lys",
"transcript": "XM_047438752.1",
"protein_id": "XP_047294708.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 449,
"cds_start": 893,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438752.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298Lys",
"transcript": "XM_047438753.1",
"protein_id": "XP_047294709.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 449,
"cds_start": 893,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438753.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298Lys",
"transcript": "XM_047438754.1",
"protein_id": "XP_047294710.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 449,
"cds_start": 893,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438754.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Lys",
"transcript": "XM_047438755.1",
"protein_id": "XP_047294711.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 240,
"cds_start": 266,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438755.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Lys",
"transcript": "XM_047438756.1",
"protein_id": "XP_047294712.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 240,
"cds_start": 266,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438756.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Lys",
"transcript": "XM_047438757.1",
"protein_id": "XP_047294713.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 240,
"cds_start": 266,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438757.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Lys",
"transcript": "XM_047438758.1",
"protein_id": "XP_047294714.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 240,
"cds_start": 266,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ADAMTSL5",
"gene_hgnc_id": 27912,
"hgvs_c": "n.288G>A",
"hgvs_p": null,
"transcript": "ENST00000590682.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000590682.2"
}
],
"gene_symbol": "ADAMTSL5",
"gene_hgnc_id": 27912,
"dbsnp": "rs200191805",
"frequency_reference_population": 7.199455e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.19946e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29815366864204407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.2187,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.638,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367197.1",
"gene_symbol": "ADAMTSL5",
"hgnc_id": 27912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}