← 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: 10-5000649-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5000649&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5000649,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001354.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "NM_001393392.1",
"protein_id": "NP_001380321.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 323,
"cds_start": 270,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380753.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393392.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "ENST00000380753.9",
"protein_id": "ENSP00000370129.4",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 323,
"cds_start": 270,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393392.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380753.9"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "ENST00000421196.7",
"protein_id": "ENSP00000392694.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 297,
"cds_start": 270,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421196.7"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.393T>G",
"hgvs_p": "p.His131Gln",
"transcript": "ENST00000867375.1",
"protein_id": "ENSP00000537434.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 364,
"cds_start": 393,
"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": "ENST00000867375.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "NM_001354.6",
"protein_id": "NP_001345.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 323,
"cds_start": 270,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "NM_205845.3",
"protein_id": "NP_995317.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 323,
"cds_start": 270,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205845.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "ENST00000962120.1",
"protein_id": "ENSP00000632179.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 320,
"cds_start": 270,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962120.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "NM_001321027.2",
"protein_id": "NP_001307956.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 297,
"cds_start": 270,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321027.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.180T>G",
"hgvs_p": "p.His60Gln",
"transcript": "ENST00000867376.1",
"protein_id": "ENSP00000537435.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 293,
"cds_start": 180,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867376.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.174T>G",
"hgvs_p": "p.His58Gln",
"transcript": "ENST00000867374.1",
"protein_id": "ENSP00000537433.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 291,
"cds_start": 174,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867374.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "ENST00000604507.5",
"protein_id": "ENSP00000474566.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 199,
"cds_start": 270,
"cds_end": null,
"cds_length": 602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604507.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "NM_001135241.3",
"protein_id": "NP_001128713.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 139,
"cds_start": 270,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135241.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "ENST00000455190.2",
"protein_id": "ENSP00000408440.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 139,
"cds_start": 270,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455190.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "XM_047424682.1",
"protein_id": "XP_047280638.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 323,
"cds_start": 270,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424682.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln",
"transcript": "XM_047424683.1",
"protein_id": "XP_047280639.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 323,
"cds_start": 270,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424683.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.85-1902T>G",
"hgvs_p": null,
"transcript": "ENST00000867377.1",
"protein_id": "ENSP00000537436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "n.458T>G",
"hgvs_p": null,
"transcript": "ENST00000460124.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000460124.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "n.296T>G",
"hgvs_p": null,
"transcript": "ENST00000604184.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000604184.1"
}
],
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"dbsnp": "rs797044460",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6014688014984131,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.253,
"revel_prediction": "Benign",
"alphamissense_score": 0.6545,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.022,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001354.6",
"gene_symbol": "AKR1C2",
"hgnc_id": 385,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.270T>G",
"hgvs_p": "p.His90Gln"
}
],
"clinvar_disease": "20-desmolase deficiency,46,XY disorder of sex development due to testicular 17",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}