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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: 5-149980983-CTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=149980983&ref=CTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 149980983,
"ref": "CTT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_000112.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "NM_000112.4",
"protein_id": "NP_000103.2",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 8054,
"mane_select": "ENST00000286298.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000112.4"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "ENST00000286298.5",
"protein_id": "ENSP00000286298.4",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 8054,
"mane_select": "NM_000112.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286298.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "ENST00000862081.1",
"protein_id": "ENSP00000532140.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862081.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "ENST00000862082.1",
"protein_id": "ENSP00000532141.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 4197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862082.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "ENST00000862083.1",
"protein_id": "ENSP00000532142.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862083.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "ENST00000862084.1",
"protein_id": "ENSP00000532143.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1666,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862084.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "ENST00000862085.1",
"protein_id": "ENSP00000532144.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862085.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "ENST00000862086.1",
"protein_id": "ENSP00000532145.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862086.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "ENST00000862087.1",
"protein_id": "ENSP00000532146.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862087.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1288_1289delTT",
"hgvs_p": "p.Leu430fs",
"transcript": "ENST00000862088.1",
"protein_id": "ENSP00000532147.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 704,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862088.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs",
"transcript": "XM_017009191.3",
"protein_id": "XP_016864680.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 739,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009191.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"hgvs_c": "c.372+2635_372+2636delTT",
"hgvs_p": null,
"transcript": "ENST00000503336.1",
"protein_id": "ENSP00000426053.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503336.1"
}
],
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"dbsnp": "rs386833495",
"frequency_reference_population": 0.0000027362926,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273629,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"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": 7.969,
"phylop100way_prediction": "Pathogenic",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000112.4",
"gene_symbol": "SLC26A2",
"hgnc_id": 10994,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1393_1394delTT",
"hgvs_p": "p.Leu465fs"
}
],
"clinvar_disease": " type IB,Achondrogenesis,Atelosteogenesis type II,Diastrophic dysplasia,Multiple epiphyseal dysplasia type 4",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Achondrogenesis, type IB;Atelosteogenesis type II;Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}