← Back to variant description
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: 3-48626985-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48626985&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 48626985,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022911.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Gly655Glu",
"transcript": "NM_022911.3",
"protein_id": "NP_075062.2",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 759,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "ENST00000395550.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Gly655Glu",
"transcript": "ENST00000395550.7",
"protein_id": "ENSP00000378920.2",
"transcript_support_level": 1,
"aa_start": 655,
"aa_end": null,
"aa_length": 759,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": "NM_022911.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1961G>A",
"hgvs_p": "p.Gly654Glu",
"transcript": "ENST00000420764.6",
"protein_id": "ENSP00000404684.2",
"transcript_support_level": 1,
"aa_start": 654,
"aa_end": null,
"aa_length": 758,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Gly636Glu",
"transcript": "ENST00000383733.7",
"protein_id": "ENSP00000373239.3",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 740,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Gly634Glu",
"transcript": "ENST00000358747.10",
"protein_id": "ENSP00000351597.6",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 738,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.*1585G>A",
"hgvs_p": null,
"transcript": "ENST00000307364.10",
"protein_id": "ENSP00000307089.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.2152G>A",
"hgvs_p": null,
"transcript": "ENST00000480524.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.*1585G>A",
"hgvs_p": null,
"transcript": "ENST00000307364.10",
"protein_id": "ENSP00000307089.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1961G>A",
"hgvs_p": "p.Gly654Glu",
"transcript": "NM_134263.3",
"protein_id": "NP_599025.2",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 758,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1907G>A",
"hgvs_p": "p.Gly636Glu",
"transcript": "NM_134426.3",
"protein_id": "NP_602298.2",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 740,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Gly634Glu",
"transcript": "NM_001040454.1",
"protein_id": "NP_001035544.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 738,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Gly619Glu",
"transcript": "NM_001281732.2",
"protein_id": "NP_001268661.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 723,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Gly619Glu",
"transcript": "ENST00000455886.6",
"protein_id": "ENSP00000401066.2",
"transcript_support_level": 2,
"aa_start": 619,
"aa_end": null,
"aa_length": 723,
"cds_start": 1856,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Gly547Glu",
"transcript": "NM_001281733.2",
"protein_id": "NP_001268662.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 651,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1708,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "c.1640G>A",
"hgvs_p": "p.Gly547Glu",
"transcript": "ENST00000337000.12",
"protein_id": "ENSP00000337648.8",
"transcript_support_level": 2,
"aa_start": 547,
"aa_end": null,
"aa_length": 651,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.615G>A",
"hgvs_p": null,
"transcript": "ENST00000466257.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"hgvs_c": "n.5105G>A",
"hgvs_p": null,
"transcript": "ENST00000489483.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300190",
"gene_hgnc_id": null,
"hgvs_c": "n.259-1479C>T",
"hgvs_p": null,
"transcript": "ENST00000769883.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC26A6",
"gene_hgnc_id": 14472,
"dbsnp": "rs769425176",
"frequency_reference_population": 0.000008054283,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000082086,
"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.040257155895233154,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.0827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.375,
"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_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022911.3",
"gene_symbol": "SLC26A6",
"hgnc_id": 14472,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1964G>A",
"hgvs_p": "p.Gly655Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000769883.1",
"gene_symbol": "ENSG00000300190",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.259-1479C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}