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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: 3-146071386-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146071386&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 146071386,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_182943.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1886C>G",
"hgvs_p": "p.Thr629Ser",
"transcript": "NM_182943.3",
"protein_id": "NP_891988.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 758,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282903.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182943.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1886C>G",
"hgvs_p": "p.Thr629Ser",
"transcript": "ENST00000282903.10",
"protein_id": "ENSP00000282903.5",
"transcript_support_level": 1,
"aa_start": 629,
"aa_end": null,
"aa_length": 758,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182943.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282903.10"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1823C>G",
"hgvs_p": "p.Thr608Ser",
"transcript": "ENST00000360060.7",
"protein_id": "ENSP00000353170.3",
"transcript_support_level": 1,
"aa_start": 608,
"aa_end": null,
"aa_length": 737,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360060.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1886C>G",
"hgvs_p": "p.Thr629Ser",
"transcript": "ENST00000703518.1",
"protein_id": "ENSP00000515350.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 758,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703518.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1886C>G",
"hgvs_p": "p.Thr629Ser",
"transcript": "ENST00000703522.1",
"protein_id": "ENSP00000515353.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 758,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703522.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1886C>G",
"hgvs_p": "p.Thr629Ser",
"transcript": "ENST00000703527.1",
"protein_id": "ENSP00000515355.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 758,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703527.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1880C>G",
"hgvs_p": "p.Thr627Ser",
"transcript": "ENST00000956318.1",
"protein_id": "ENSP00000626377.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 756,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956318.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1844C>G",
"hgvs_p": "p.Thr615Ser",
"transcript": "ENST00000956314.1",
"protein_id": "ENSP00000626373.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 744,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956314.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1823C>G",
"hgvs_p": "p.Thr608Ser",
"transcript": "ENST00000956316.1",
"protein_id": "ENSP00000626375.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 738,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956316.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1823C>G",
"hgvs_p": "p.Thr608Ser",
"transcript": "NM_000935.3",
"protein_id": "NP_000926.2",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 737,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000935.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1823C>G",
"hgvs_p": "p.Thr608Ser",
"transcript": "ENST00000703523.1",
"protein_id": "ENSP00000515354.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 737,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703523.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1820C>G",
"hgvs_p": "p.Thr607Ser",
"transcript": "ENST00000956313.1",
"protein_id": "ENSP00000626372.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 736,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956313.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1790C>G",
"hgvs_p": "p.Thr597Ser",
"transcript": "ENST00000956315.1",
"protein_id": "ENSP00000626374.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 726,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956315.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1781C>G",
"hgvs_p": "p.Thr594Ser",
"transcript": "ENST00000956319.1",
"protein_id": "ENSP00000626378.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 723,
"cds_start": 1781,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956319.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1772C>G",
"hgvs_p": "p.Thr591Ser",
"transcript": "ENST00000956312.1",
"protein_id": "ENSP00000626371.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 720,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956312.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1886C>G",
"hgvs_p": "p.Thr629Ser",
"transcript": "ENST00000902447.1",
"protein_id": "ENSP00000572506.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 716,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902447.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1760C>G",
"hgvs_p": "p.Thr587Ser",
"transcript": "ENST00000956317.1",
"protein_id": "ENSP00000626376.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 716,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956317.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1739C>G",
"hgvs_p": "p.Thr580Ser",
"transcript": "ENST00000469350.6",
"protein_id": "ENSP00000419963.2",
"transcript_support_level": 5,
"aa_start": 580,
"aa_end": null,
"aa_length": 709,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469350.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1721C>G",
"hgvs_p": "p.Thr574Ser",
"transcript": "ENST00000494950.5",
"protein_id": "ENSP00000420094.1",
"transcript_support_level": 2,
"aa_start": 574,
"aa_end": null,
"aa_length": 703,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494950.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1718C>G",
"hgvs_p": "p.Thr573Ser",
"transcript": "ENST00000706635.1",
"protein_id": "ENSP00000516475.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 702,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706635.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1709C>G",
"hgvs_p": "p.Thr570Ser",
"transcript": "ENST00000706626.1",
"protein_id": "ENSP00000516472.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 699,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706626.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD2",
"gene_hgnc_id": 9082,
"hgvs_c": "c.1430C>G",
"hgvs_p": "p.Thr477Ser",
"transcript": "ENST00000930098.1",
"protein_id": "ENSP00000600157.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 606,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1821,
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"frequency_reference_population": 0.000006592914,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000659291,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8661699295043945,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.673,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_182943.3",
"gene_symbol": "PLOD2",
"hgnc_id": 9082,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1886C>G",
"hgvs_p": "p.Thr629Ser"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000480247.1",
"gene_symbol": "ENSG00000243415",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.337+3208G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}