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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: 18-36959400-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=36959400&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 36959400,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020776.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.541T>G",
"hgvs_p": "p.Ser181Ala",
"transcript": "NM_020776.3",
"protein_id": "NP_065827.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 577,
"cds_start": 541,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280020.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020776.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.541T>G",
"hgvs_p": "p.Ser181Ala",
"transcript": "ENST00000280020.10",
"protein_id": "ENSP00000280020.5",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 577,
"cds_start": 541,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020776.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280020.10"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Ser177Ala",
"transcript": "ENST00000591619.5",
"protein_id": "ENSP00000465550.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 573,
"cds_start": 529,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591619.5"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.-277+12883T>G",
"hgvs_p": null,
"transcript": "ENST00000586135.1",
"protein_id": "ENSP00000467507.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586135.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "n.*200T>G",
"hgvs_p": null,
"transcript": "ENST00000590617.5",
"protein_id": "ENSP00000467248.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590617.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "n.*200T>G",
"hgvs_p": null,
"transcript": "ENST00000590617.5",
"protein_id": "ENSP00000467248.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000590617.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.541T>G",
"hgvs_p": "p.Ser181Ala",
"transcript": "ENST00000908902.1",
"protein_id": "ENSP00000578961.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 613,
"cds_start": 541,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908902.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.502T>G",
"hgvs_p": "p.Ser168Ala",
"transcript": "ENST00000587139.5",
"protein_id": "ENSP00000466355.1",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 600,
"cds_start": 502,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587139.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Ser177Ala",
"transcript": "NM_001353918.2",
"protein_id": "NP_001340847.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 573,
"cds_start": 529,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353918.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Ser73Ala",
"transcript": "NM_001322327.2",
"protein_id": "NP_001309256.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 505,
"cds_start": 217,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322327.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.217T>G",
"hgvs_p": "p.Ser73Ala",
"transcript": "NM_001353919.2",
"protein_id": "NP_001340848.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 469,
"cds_start": 217,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353919.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.541T>G",
"hgvs_p": "p.Ser181Ala",
"transcript": "XM_005258315.6",
"protein_id": "XP_005258372.3",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 613,
"cds_start": 541,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258315.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Ser177Ala",
"transcript": "XM_017025876.2",
"protein_id": "XP_016881365.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 609,
"cds_start": 529,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025876.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Ser177Ala",
"transcript": "XM_047437677.1",
"protein_id": "XP_047293633.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 609,
"cds_start": 529,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437677.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Ser177Ala",
"transcript": "XM_047437678.1",
"protein_id": "XP_047293634.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 609,
"cds_start": 529,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437678.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Ser177Ala",
"transcript": "XM_005258317.4",
"protein_id": "XP_005258374.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 573,
"cds_start": 529,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258317.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.529T>G",
"hgvs_p": "p.Ser177Ala",
"transcript": "XM_047437679.1",
"protein_id": "XP_047293635.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 573,
"cds_start": 529,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437679.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.406T>G",
"hgvs_p": "p.Ser136Ala",
"transcript": "XM_005258318.6",
"protein_id": "XP_005258375.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 568,
"cds_start": 406,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258318.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.406T>G",
"hgvs_p": "p.Ser136Ala",
"transcript": "XM_011526099.3",
"protein_id": "XP_011524401.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 568,
"cds_start": 406,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526099.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.406T>G",
"hgvs_p": "p.Ser136Ala",
"transcript": "XM_047437680.1",
"protein_id": "XP_047293636.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 568,
"cds_start": 406,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437680.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.541T>G",
"hgvs_p": "p.Ser181Ala",
"transcript": "XM_011526100.4",
"protein_id": "XP_011524402.3",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 456,
"cds_start": 541,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526100.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.10T>G",
"hgvs_p": "p.Ser4Ala",
"transcript": "XM_017025879.2",
"protein_id": "XP_016881368.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 436,
"cds_start": 10,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025879.2"
},
{
"aa_ref": "S",
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{
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],
"gene_symbol": "KIAA1328",
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"dbsnp": "rs749804365",
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"hom_count_reference_population": 0,
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"computational_score_selected": 0.20489728450775146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.1,
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.374,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020776.3",
"gene_symbol": "KIAA1328",
"hgnc_id": 29248,
"effects": [
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],
"inheritance_mode": "AR",
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],
"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
}