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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: 20-63247591-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63247591&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63247591,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152864.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Gln153Arg",
"transcript": "NM_152864.4",
"protein_id": "NP_690603.3",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 208,
"cds_start": 458,
"cds_end": null,
"cds_length": 627,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": "ENST00000370316.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152864.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Gln153Arg",
"transcript": "ENST00000370316.8",
"protein_id": "ENSP00000359340.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 208,
"cds_start": 458,
"cds_end": null,
"cds_length": 627,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": "NM_152864.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370316.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Gln83Arg",
"transcript": "ENST00000370317.3",
"protein_id": "ENSP00000359341.3",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 167,
"cds_start": 248,
"cds_end": null,
"cds_length": 504,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370317.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "NM_001363747.1",
"protein_id": "NP_001350676.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 146,
"cds_start": 272,
"cds_end": null,
"cds_length": 441,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363747.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "ENST00000370307.6",
"protein_id": "ENSP00000359330.2",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 146,
"cds_start": 272,
"cds_end": null,
"cds_length": 441,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370307.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "NM_001363718.1",
"protein_id": "NP_001350647.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 119,
"cds_start": 272,
"cds_end": null,
"cds_length": 360,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363718.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "ENST00000370313.5",
"protein_id": "ENSP00000359336.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 119,
"cds_start": 272,
"cds_end": null,
"cds_length": 360,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370313.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Gln153Arg",
"transcript": "XM_011528527.3",
"protein_id": "XP_011526829.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 222,
"cds_start": 458,
"cds_end": null,
"cds_length": 669,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528527.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Gln153Arg",
"transcript": "XM_005260192.3",
"protein_id": "XP_005260249.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 181,
"cds_start": 458,
"cds_end": null,
"cds_length": 546,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260192.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "XM_011528528.4",
"protein_id": "XP_011526830.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 160,
"cds_start": 272,
"cds_end": null,
"cds_length": 483,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528528.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "XM_011528529.4",
"protein_id": "XP_011526831.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 160,
"cds_start": 272,
"cds_end": null,
"cds_length": 483,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528529.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "XM_017027636.3",
"protein_id": "XP_016883125.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 160,
"cds_start": 272,
"cds_end": null,
"cds_length": 483,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027636.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "XM_017027637.3",
"protein_id": "XP_016883126.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 160,
"cds_start": 272,
"cds_end": null,
"cds_length": 483,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027637.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "XM_024451824.2",
"protein_id": "XP_024307592.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 160,
"cds_start": 272,
"cds_end": null,
"cds_length": 483,
"cdna_start": 3388,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451824.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "XM_047439872.1",
"protein_id": "XP_047295828.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 160,
"cds_start": 272,
"cds_end": null,
"cds_length": 483,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439872.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "c.272A>G",
"hgvs_p": "p.Gln91Arg",
"transcript": "XM_047439871.1",
"protein_id": "XP_047295827.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 146,
"cds_start": 272,
"cds_end": null,
"cds_length": 441,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124904950",
"gene_hgnc_id": null,
"hgvs_c": "c.*1611T>C",
"hgvs_p": null,
"transcript": "XM_047440633.1",
"protein_id": "XP_047296589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": null,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440633.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "n.637A>G",
"hgvs_p": null,
"transcript": "ENST00000461738.1",
"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": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461738.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "n.273A>G",
"hgvs_p": null,
"transcript": "ENST00000466885.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 797,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000466885.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKAIN4",
"gene_hgnc_id": 16191,
"hgvs_c": "n.624A>G",
"hgvs_p": null,
"transcript": "ENST00000486495.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 872,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486495.5"
}
],
"gene_symbol": "NKAIN4",
"gene_hgnc_id": 16191,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9652345180511475,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4975,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.649,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_152864.4",
"gene_symbol": "NKAIN4",
"hgnc_id": 16191,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.458A>G",
"hgvs_p": "p.Gln153Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XM_047440633.1",
"gene_symbol": "LOC124904950",
"hgnc_id": null,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*1611T>C",
"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
}