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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: 14-21522987-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21522987&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21522987,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005407.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2735A>G",
"hgvs_p": "p.Glu912Gly",
"transcript": "NM_001364564.1",
"protein_id": "NP_001351493.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2735,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000537235.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364564.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2735A>G",
"hgvs_p": "p.Glu912Gly",
"transcript": "ENST00000537235.2",
"protein_id": "ENSP00000438493.2",
"transcript_support_level": 2,
"aa_start": 912,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2735,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364564.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537235.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2741A>G",
"hgvs_p": "p.Glu914Gly",
"transcript": "ENST00000614342.1",
"protein_id": "ENSP00000483562.1",
"transcript_support_level": 1,
"aa_start": 914,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.386-743A>G",
"hgvs_p": null,
"transcript": "ENST00000611430.4",
"protein_id": "ENSP00000484460.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": null,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611430.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2741A>G",
"hgvs_p": "p.Glu914Gly",
"transcript": "NM_005407.3",
"protein_id": "NP_005398.2",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005407.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2336A>G",
"hgvs_p": "p.Glu779Gly",
"transcript": "NM_001291446.2",
"protein_id": "NP_001278375.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 908,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291446.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2330A>G",
"hgvs_p": "p.Glu777Gly",
"transcript": "NM_001291447.2",
"protein_id": "NP_001278376.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 906,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291447.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2330A>G",
"hgvs_p": "p.Glu777Gly",
"transcript": "ENST00000450879.2",
"protein_id": "ENSP00000396773.2",
"transcript_support_level": 2,
"aa_start": 777,
"aa_end": null,
"aa_length": 906,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450879.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2315A>G",
"hgvs_p": "p.Glu772Gly",
"transcript": "ENST00000546363.5",
"protein_id": "ENSP00000440054.1",
"transcript_support_level": 2,
"aa_start": 772,
"aa_end": null,
"aa_length": 901,
"cds_start": 2315,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546363.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2741A>G",
"hgvs_p": "p.Glu914Gly",
"transcript": "XM_011537064.2",
"protein_id": "XP_011535366.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2741,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537064.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.2735A>G",
"hgvs_p": "p.Glu912Gly",
"transcript": "XM_011537065.3",
"protein_id": "XP_011535367.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2735,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537065.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "c.392-743A>G",
"hgvs_p": null,
"transcript": "ENST00000613414.4",
"protein_id": "ENSP00000483202.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": null,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613414.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "n.592-743A>G",
"hgvs_p": null,
"transcript": "NR_111966.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_111966.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"hgvs_c": "n.605-743A>G",
"hgvs_p": null,
"transcript": "NR_111967.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_111967.2"
}
],
"gene_symbol": "SALL2",
"gene_hgnc_id": 10526,
"dbsnp": "rs775030177",
"frequency_reference_population": 0.0000020521577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205216,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20375344157218933,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.0851,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.769,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005407.3",
"gene_symbol": "SALL2",
"hgnc_id": 10526,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2741A>G",
"hgvs_p": "p.Glu914Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}