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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: 9-129095473-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129095473&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129095473,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001346546.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602His",
"transcript": "NM_000755.5",
"protein_id": "NP_000746.3",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 626,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": "ENST00000318080.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000755.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602His",
"transcript": "ENST00000318080.7",
"protein_id": "ENSP00000315013.2",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 626,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": "NM_000755.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318080.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "n.*1781G>A",
"hgvs_p": null,
"transcript": "ENST00000458362.5",
"protein_id": "ENSP00000400367.1",
"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": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458362.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "n.*1781G>A",
"hgvs_p": null,
"transcript": "ENST00000458362.5",
"protein_id": "ENSP00000400367.1",
"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": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458362.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1946G>A",
"hgvs_p": "p.Arg649His",
"transcript": "ENST00000943969.1",
"protein_id": "ENSP00000614028.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 673,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943969.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1835G>A",
"hgvs_p": "p.Arg612His",
"transcript": "ENST00000943961.1",
"protein_id": "ENSP00000614020.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 636,
"cds_start": 1835,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943961.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1808G>A",
"hgvs_p": "p.Arg603His",
"transcript": "NM_001346546.2",
"protein_id": "NP_001333475.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 627,
"cds_start": 1808,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346546.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602His",
"transcript": "ENST00000943957.1",
"protein_id": "ENSP00000614016.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 626,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943957.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1790G>A",
"hgvs_p": "p.Arg597His",
"transcript": "ENST00000943966.1",
"protein_id": "ENSP00000614025.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 621,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943966.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1778G>A",
"hgvs_p": "p.Arg593His",
"transcript": "ENST00000943967.1",
"protein_id": "ENSP00000614026.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 617,
"cds_start": 1778,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1932,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943967.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Arg588His",
"transcript": "ENST00000943963.1",
"protein_id": "ENSP00000614022.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 612,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943963.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584His",
"transcript": "ENST00000868875.1",
"protein_id": "ENSP00000538934.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 608,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 2706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868875.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584His",
"transcript": "ENST00000868877.1",
"protein_id": "ENSP00000538936.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 608,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868877.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1745G>A",
"hgvs_p": "p.Arg582His",
"transcript": "ENST00000868876.1",
"protein_id": "ENSP00000538935.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 606,
"cds_start": 1745,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868876.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581His",
"transcript": "NM_001257363.3",
"protein_id": "NP_001244292.2",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 605,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257363.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581His",
"transcript": "NM_004003.4",
"protein_id": "NP_003994.3",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 605,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004003.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581His",
"transcript": "ENST00000943968.1",
"protein_id": "ENSP00000614027.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 605,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943968.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1739G>A",
"hgvs_p": "p.Arg580His",
"transcript": "ENST00000943959.1",
"protein_id": "ENSP00000614018.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 604,
"cds_start": 1739,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943959.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578His",
"transcript": "NM_001346547.2",
"protein_id": "NP_001333476.2",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 602,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346547.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Arg578His",
"transcript": "ENST00000681627.1",
"protein_id": "ENSP00000506267.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 602,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681627.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570His",
"transcript": "ENST00000868878.1",
"protein_id": "ENSP00000538937.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 594,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868878.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRAT",
"gene_hgnc_id": 2342,
"hgvs_c": "c.1700G>A",
"hgvs_p": "p.Arg567His",
"transcript": "ENST00000868879.1",
"protein_id": "ENSP00000538938.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 591,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1939,
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3172524571418762,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.384,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0982,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001346546.2",
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"effects": [
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],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.1808G>A",
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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
}