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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: 5-149981550-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=149981550&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 149981550,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000112.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "NM_000112.4",
"protein_id": "NP_000103.2",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "ENST00000286298.5",
"protein_id": "ENSP00000286298.4",
"transcript_support_level": 1,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "ENST00000862081.1",
"protein_id": "ENSP00000532140.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "ENST00000862082.1",
"protein_id": "ENSP00000532141.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "ENST00000862083.1",
"protein_id": "ENSP00000532142.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "ENST00000862084.1",
"protein_id": "ENSP00000532143.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "ENST00000862085.1",
"protein_id": "ENSP00000532144.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "ENST00000862086.1",
"protein_id": "ENSP00000532145.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "ENST00000862087.1",
"protein_id": "ENSP00000532146.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1852T>G",
"hgvs_p": "p.Cys618Gly",
"transcript": "ENST00000862088.1",
"protein_id": "ENSP00000532147.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 704,
"cds_start": 1852,
"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": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1957T>G",
"hgvs_p": "p.Cys653Gly",
"transcript": "XM_017009191.3",
"protein_id": "XP_016864680.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 739,
"cds_start": 1957,
"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+3199T>G",
"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": "rs104893924",
"frequency_reference_population": 6.8406473e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84065e-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": 0.9687643051147461,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.844,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3655,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.94,
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000112.4",
"gene_symbol": "SLC26A2",
"hgnc_id": 10994,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1957T>G",
"hgvs_p": "p.Cys653Gly"
}
],
"clinvar_disease": " type IB,Achondrogenesis,Atelosteogenesis type II,Diastrophic dysplasia,Multiple epiphyseal dysplasia type 4",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Achondrogenesis, type IB;Atelosteogenesis type II;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4|Diastrophic dysplasia",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}