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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: 5-149981354-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=149981354&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 149981354,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000112.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "NM_000112.4",
"protein_id": "NP_000103.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286298.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000112.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "ENST00000286298.5",
"protein_id": "ENSP00000286298.4",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000112.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286298.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "ENST00000862081.1",
"protein_id": "ENSP00000532140.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862081.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "ENST00000862082.1",
"protein_id": "ENSP00000532141.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862082.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "ENST00000862083.1",
"protein_id": "ENSP00000532142.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862083.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "ENST00000862084.1",
"protein_id": "ENSP00000532143.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862084.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "ENST00000862085.1",
"protein_id": "ENSP00000532144.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862085.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "ENST00000862086.1",
"protein_id": "ENSP00000532145.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862086.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "ENST00000862087.1",
"protein_id": "ENSP00000532146.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862087.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1656C>T",
"hgvs_p": "p.Leu552Leu",
"transcript": "ENST00000862088.1",
"protein_id": "ENSP00000532147.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 704,
"cds_start": 1656,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862088.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_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.1761C>T",
"hgvs_p": "p.Leu587Leu",
"transcript": "XM_017009191.3",
"protein_id": "XP_016864680.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 739,
"cds_start": 1761,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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+3003C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503336.1"
}
],
"gene_symbol": "SLC26A2",
"gene_hgnc_id": 10994,
"dbsnp": "rs745590895",
"frequency_reference_population": 0.000071873175,
"hom_count_reference_population": 0,
"allele_count_reference_population": 116,
"gnomad_exomes_af": 0.000070463,
"gnomad_genomes_af": 0.0000854173,
"gnomad_exomes_ac": 103,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.65,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6,BP7",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000112.4",
"gene_symbol": "SLC26A2",
"hgnc_id": 10994,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Leu587Leu"
}
],
"clinvar_disease": " type IB,Achondrogenesis,Atelosteogenesis type II,Diastrophic dysplasia,Multiple epiphyseal dysplasia type 4,Sulfate transporter-related osteochondrodysplasia,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1 B:1",
"phenotype_combined": "not specified|Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II;Achondrogenesis, type IB;Diastrophic dysplasia|Sulfate transporter-related osteochondrodysplasia|Atelosteogenesis type II|Diastrophic dysplasia|Achondrogenesis, type IB|Multiple epiphyseal dysplasia type 4",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}