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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: 4-168512175-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168512175&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 168512175,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001166108.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Met224Thr",
"transcript": "NM_001166108.2",
"protein_id": "NP_001159580.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1123,
"cds_start": 671,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505667.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166108.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Met224Thr",
"transcript": "ENST00000505667.6",
"protein_id": "ENSP00000425556.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 1123,
"cds_start": 671,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001166108.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505667.6"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Met224Thr",
"transcript": "ENST00000261509.10",
"protein_id": "ENSP00000261509.6",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 1106,
"cds_start": 671,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261509.10"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Met224Thr",
"transcript": "ENST00000968439.1",
"protein_id": "ENSP00000638498.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1123,
"cds_start": 671,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968439.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Met224Thr",
"transcript": "ENST00000871521.1",
"protein_id": "ENSP00000541580.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1121,
"cds_start": 671,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871521.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Met224Thr",
"transcript": "NM_016081.4",
"protein_id": "NP_057165.3",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 1106,
"cds_start": 671,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016081.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Met224Thr",
"transcript": "ENST00000871520.1",
"protein_id": "ENSP00000541579.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 999,
"cds_start": 671,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871520.1"
},
{
"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": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Met203Thr",
"transcript": "ENST00000508898.5",
"protein_id": "ENSP00000423063.1",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 512,
"cds_start": 608,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508898.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_011531768.3",
"protein_id": "XP_011530070.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1468,
"cds_start": 875,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531768.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_011531769.3",
"protein_id": "XP_011530071.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1451,
"cds_start": 875,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531769.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_047449861.1",
"protein_id": "XP_047305817.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1415,
"cds_start": 875,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449861.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_047449862.1",
"protein_id": "XP_047305818.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1398,
"cds_start": 875,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449862.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_011531771.3",
"protein_id": "XP_011530073.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1377,
"cds_start": 875,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531771.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_011531772.3",
"protein_id": "XP_011530074.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1344,
"cds_start": 875,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531772.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_011531773.2",
"protein_id": "XP_011530075.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1244,
"cds_start": 875,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531773.2"
},
{
"aa_ref": "M",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_011531774.2",
"protein_id": "XP_011530076.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1227,
"cds_start": 875,
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"cds_length": 3684,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531774.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.875T>C",
"hgvs_p": "p.Met292Thr",
"transcript": "XM_047449863.1",
"protein_id": "XP_047305819.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 1120,
"cds_start": 875,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.-239+14981T>C",
"hgvs_p": null,
"transcript": "XM_047449864.1",
"protein_id": "XP_047305820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1018,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047449864.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "n.288+18386A>G",
"hgvs_p": null,
"transcript": "ENST00000505150.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505150.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "n.50-6042A>G",
"hgvs_p": null,
"transcript": "ENST00000512958.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512958.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107986198",
"gene_hgnc_id": null,
"hgvs_c": "n.280+18386A>G",
"hgvs_p": null,
"transcript": "XR_001741448.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001741448.3"
}
],
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"dbsnp": "rs7655494",
"frequency_reference_population": 0.309065,
"hom_count_reference_population": 78968,
"allele_count_reference_population": 498588,
"gnomad_exomes_af": 0.310737,
"gnomad_genomes_af": 0.292967,
"gnomad_exomes_ac": 454118,
"gnomad_genomes_ac": 44470,
"gnomad_exomes_homalt": 72406,
"gnomad_genomes_homalt": 6562,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0019195079803466797,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.1079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.328,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001166108.2",
"gene_symbol": "PALLD",
"hgnc_id": 17068,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.671T>C",
"hgvs_p": "p.Met224Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000512958.1",
"gene_symbol": "DDX60L",
"hgnc_id": 26429,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.50-6042A>G",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_001741448.3",
"gene_symbol": "LOC107986198",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.280+18386A>G",
"hgvs_p": null
}
],
"clinvar_disease": " 1, susceptibility to,Pancreatic cancer,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Pancreatic cancer, susceptibility to, 1|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}