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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: 6-160132240-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=160132240&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 160132240,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003057.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "NM_003057.3",
"protein_id": "NP_003048.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 554,
"cds_start": 524,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003057.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000366963.9",
"protein_id": "ENSP00000355930.4",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 554,
"cds_start": 524,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003057.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366963.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000898298.1",
"protein_id": "ENSP00000568357.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 592,
"cds_start": 638,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898298.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898304.1",
"protein_id": "ENSP00000568363.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 583,
"cds_start": 524,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898304.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898295.1",
"protein_id": "ENSP00000568354.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 553,
"cds_start": 524,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898295.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898297.1",
"protein_id": "ENSP00000568356.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 552,
"cds_start": 524,
"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": "ENST00000898297.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898300.1",
"protein_id": "ENSP00000568359.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 551,
"cds_start": 524,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898300.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898301.1",
"protein_id": "ENSP00000568360.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 550,
"cds_start": 524,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898301.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898302.1",
"protein_id": "ENSP00000568361.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 530,
"cds_start": 524,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898302.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000898305.1",
"protein_id": "ENSP00000568364.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 521,
"cds_start": 638,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898305.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "NM_153187.2",
"protein_id": "NP_694857.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 506,
"cds_start": 524,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153187.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000324965.8",
"protein_id": "ENSP00000318103.4",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 506,
"cds_start": 524,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324965.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "NM_001437335.1",
"protein_id": "NP_001424264.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 483,
"cds_start": 524,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437335.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000457470.6",
"protein_id": "ENSP00000409557.2",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 483,
"cds_start": 524,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457470.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898296.1",
"protein_id": "ENSP00000568355.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 480,
"cds_start": 524,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898296.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898299.1",
"protein_id": "ENSP00000568358.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 480,
"cds_start": 524,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898299.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "ENST00000898303.1",
"protein_id": "ENSP00000568362.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 446,
"cds_start": 524,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898303.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"transcript": "XM_005267103.3",
"protein_id": "XP_005267160.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 573,
"cds_start": 524,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267103.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.-53G>A",
"hgvs_p": null,
"transcript": "ENST00000540443.1",
"protein_id": "ENSP00000440105.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 47,
"cds_start": null,
"cds_end": null,
"cds_length": 145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "n.524G>A",
"hgvs_p": null,
"transcript": "ENST00000460902.2",
"protein_id": "ENSP00000439274.1",
"transcript_support_level": 5,
"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": "ENST00000460902.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "n.420G>A",
"hgvs_p": null,
"transcript": "ENST00000539263.5",
"protein_id": "ENSP00000443245.1",
"transcript_support_level": 5,
"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": "ENST00000539263.5"
}
],
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"dbsnp": "rs144273196",
"frequency_reference_population": 0.000070307186,
"hom_count_reference_population": 0,
"allele_count_reference_population": 111,
"gnomad_exomes_af": 0.0000708049,
"gnomad_genomes_af": 0.0000656461,
"gnomad_exomes_ac": 101,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.839661717414856,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.753,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5891,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.548,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003057.3",
"gene_symbol": "SLC22A1",
"hgnc_id": 10963,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}