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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: 11-63370394-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=63370394&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 63370394,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_080866.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "NM_080866.3",
"protein_id": "NP_543142.2",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 553,
"cds_start": 338,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000279178.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080866.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000279178.4",
"protein_id": "ENSP00000279178.3",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 553,
"cds_start": 338,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080866.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279178.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "n.338T>C",
"hgvs_p": null,
"transcript": "ENST00000536333.5",
"protein_id": "ENSP00000440206.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000536333.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863025.1",
"protein_id": "ENSP00000533084.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 563,
"cds_start": 338,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863025.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863024.1",
"protein_id": "ENSP00000533083.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 552,
"cds_start": 338,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863024.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863026.1",
"protein_id": "ENSP00000533085.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 552,
"cds_start": 338,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863026.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863023.1",
"protein_id": "ENSP00000533082.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 499,
"cds_start": 338,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863023.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863028.1",
"protein_id": "ENSP00000533087.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 498,
"cds_start": 338,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863028.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863021.1",
"protein_id": "ENSP00000533080.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 488,
"cds_start": 338,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863021.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863027.1",
"protein_id": "ENSP00000533086.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 485,
"cds_start": 338,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863027.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863020.1",
"protein_id": "ENSP00000533079.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 472,
"cds_start": 338,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863020.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863030.1",
"protein_id": "ENSP00000533089.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 394,
"cds_start": 338,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863030.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863022.1",
"protein_id": "ENSP00000533081.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 377,
"cds_start": 338,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863022.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863029.1",
"protein_id": "ENSP00000533088.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 364,
"cds_start": 338,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863029.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "ENST00000863031.1",
"protein_id": "ENSP00000533090.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 296,
"cds_start": 338,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863031.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr",
"transcript": "XM_017017159.3",
"protein_id": "XP_016872648.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 445,
"cds_start": 338,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017159.3"
}
],
"gene_symbol": "SLC22A9",
"gene_hgnc_id": 16261,
"dbsnp": "rs146412511",
"frequency_reference_population": 0.000032858967,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000177987,
"gnomad_genomes_af": 0.000177431,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007879674434661865,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.0486,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.732,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_080866.3",
"gene_symbol": "SLC22A9",
"hgnc_id": 16261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.338T>C",
"hgvs_p": "p.Met113Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}