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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: 19-35743899-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35743899&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35743899,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001040425.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "NM_001040425.3",
"protein_id": "NP_001035515.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 181,
"cds_start": 371,
"cds_end": null,
"cds_length": 546,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 765,
"mane_select": "ENST00000378975.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser",
"transcript": "ENST00000378975.8",
"protein_id": "ENSP00000368258.2",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 181,
"cds_start": 371,
"cds_end": null,
"cds_length": 546,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 765,
"mane_select": "NM_001040425.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "c.313G>C",
"hgvs_p": "p.Val105Leu",
"transcript": "ENST00000292879.9",
"protein_id": "ENSP00000292879.4",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 202,
"cds_start": 313,
"cds_end": null,
"cds_length": 609,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.*339G>C",
"hgvs_p": null,
"transcript": "ENST00000587987.5",
"protein_id": "ENSP00000465170.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267120",
"gene_hgnc_id": null,
"hgvs_c": "n.*132G>C",
"hgvs_p": null,
"transcript": "ENST00000589807.1",
"protein_id": "ENSP00000472696.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.*339G>C",
"hgvs_p": null,
"transcript": "ENST00000587987.5",
"protein_id": "ENSP00000465170.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267120",
"gene_hgnc_id": null,
"hgvs_c": "n.*132G>C",
"hgvs_p": null,
"transcript": "ENST00000589807.1",
"protein_id": "ENSP00000472696.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "c.488G>C",
"hgvs_p": "p.Cys163Ser",
"transcript": "ENST00000412391.6",
"protein_id": "ENSP00000397645.2",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 220,
"cds_start": 488,
"cds_end": null,
"cds_length": 663,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "c.313G>C",
"hgvs_p": "p.Val105Leu",
"transcript": "NM_144987.4",
"protein_id": "NP_659424.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 202,
"cds_start": 313,
"cds_end": null,
"cds_length": 609,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "c.313G>C",
"hgvs_p": "p.Val105Leu",
"transcript": "NM_001369824.2",
"protein_id": "NP_001356753.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 139,
"cds_start": 313,
"cds_end": null,
"cds_length": 420,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.879G>C",
"hgvs_p": null,
"transcript": "ENST00000585554.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.1042G>C",
"hgvs_p": null,
"transcript": "ENST00000586476.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.1216G>C",
"hgvs_p": null,
"transcript": "ENST00000588892.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.1204G>C",
"hgvs_p": null,
"transcript": "ENST00000588980.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.*132G>C",
"hgvs_p": null,
"transcript": "ENST00000589429.5",
"protein_id": "ENSP00000473940.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.393G>C",
"hgvs_p": null,
"transcript": "ENST00000590135.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.*132G>C",
"hgvs_p": null,
"transcript": "ENST00000591057.5",
"protein_id": "ENSP00000465242.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.*132G>C",
"hgvs_p": null,
"transcript": "ENST00000591084.5",
"protein_id": "ENSP00000475046.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.381G>C",
"hgvs_p": null,
"transcript": "ENST00000591855.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.613G>C",
"hgvs_p": null,
"transcript": "ENST00000592913.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.*237G>C",
"hgvs_p": null,
"transcript": "ENST00000594792.5",
"protein_id": "ENSP00000471804.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.*132G>C",
"hgvs_p": null,
"transcript": "ENST00000600296.5",
"protein_id": "ENSP00000474493.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1L4",
"gene_hgnc_id": 23020,
"hgvs_c": "n.*179G>C",
"hgvs_p": null,
"transcript": "ENST00000601236.1",
"protein_id": "ENSP00000469891.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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],
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"dbsnp": "rs780666454",
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.825,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.64,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001040425.3",
"gene_symbol": "U2AF1L4",
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"effects": [
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"inheritance_mode": "AR",
"hgvs_c": "c.371G>C",
"hgvs_p": "p.Cys124Ser"
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{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000589807.1",
"gene_symbol": "ENSG00000267120",
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"effects": [
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"inheritance_mode": "",
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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
}