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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: 14-70907862-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=70907862&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 70907862,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014982.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "NM_014982.3",
"protein_id": "NP_055797.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2341,
"cds_start": 12,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12865,
"mane_select": "ENST00000304743.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014982.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "ENST00000304743.7",
"protein_id": "ENSP00000304192.2",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 2341,
"cds_start": 12,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12865,
"mane_select": "NM_014982.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304743.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "ENST00000439984.7",
"protein_id": "ENSP00000396617.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 2230,
"cds_start": 12,
"cds_end": null,
"cds_length": 6693,
"cdna_start": 124,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439984.7"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "n.458G>C",
"hgvs_p": null,
"transcript": "ENST00000554879.5",
"protein_id": null,
"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": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554879.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "NM_001308160.2",
"protein_id": "NP_001295089.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2230,
"cds_start": 12,
"cds_end": null,
"cds_length": 6693,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308160.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_005267420.5",
"protein_id": "XP_005267477.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2349,
"cds_start": 12,
"cds_end": null,
"cds_length": 7050,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267420.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_005267421.5",
"protein_id": "XP_005267478.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2348,
"cds_start": 12,
"cds_end": null,
"cds_length": 7047,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267421.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_005267422.5",
"protein_id": "XP_005267479.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2344,
"cds_start": 12,
"cds_end": null,
"cds_length": 7035,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267422.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_047431121.1",
"protein_id": "XP_047287077.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2340,
"cds_start": 12,
"cds_end": null,
"cds_length": 7023,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431121.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_005267423.5",
"protein_id": "XP_005267480.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2336,
"cds_start": 12,
"cds_end": null,
"cds_length": 7011,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267423.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_047431122.1",
"protein_id": "XP_047287078.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2335,
"cds_start": 12,
"cds_end": null,
"cds_length": 7008,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431122.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_005267425.5",
"protein_id": "XP_005267482.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2243,
"cds_start": 12,
"cds_end": null,
"cds_length": 6732,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267425.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_047431124.1",
"protein_id": "XP_047287080.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2238,
"cds_start": 12,
"cds_end": null,
"cds_length": 6717,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431124.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_017021096.2",
"protein_id": "XP_016876585.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 2235,
"cds_start": 12,
"cds_end": null,
"cds_length": 6708,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 12547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021096.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_005267427.5",
"protein_id": "XP_005267484.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1515,
"cds_start": 12,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 5013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267427.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His",
"transcript": "XM_047431130.1",
"protein_id": "XP_047287086.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 1469,
"cds_start": 12,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431130.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "n.193G>C",
"hgvs_p": null,
"transcript": "ENST00000554292.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 402,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554292.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "n.404G>C",
"hgvs_p": null,
"transcript": "XR_007063992.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4975,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063992.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"hgvs_c": "n.404G>C",
"hgvs_p": null,
"transcript": "XR_245673.5",
"protein_id": null,
"transcript_support_level": null,
"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": 4999,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_245673.5"
}
],
"gene_symbol": "PCNX1",
"gene_hgnc_id": 19740,
"dbsnp": "rs771612445",
"frequency_reference_population": 0.000004683746,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000468375,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3742383122444153,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.5075,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.963,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014982.3",
"gene_symbol": "PCNX1",
"hgnc_id": 19740,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.12G>C",
"hgvs_p": "p.Gln4His"
}
],
"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
}