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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: 9-137307041-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137307041&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137307041,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017820.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2540G>A",
"hgvs_p": "p.Arg847His",
"transcript": "NM_017820.5",
"protein_id": "NP_060290.3",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 876,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340951.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017820.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2540G>A",
"hgvs_p": "p.Arg847His",
"transcript": "ENST00000340951.9",
"protein_id": "ENSP00000340474.4",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 876,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017820.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340951.9"
},
{
"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": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*1608G>A",
"hgvs_p": null,
"transcript": "ENST00000491734.6",
"protein_id": "ENSP00000435830.1",
"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": "ENST00000491734.6"
},
{
"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": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "n.*1608G>A",
"hgvs_p": null,
"transcript": "ENST00000491734.6",
"protein_id": "ENSP00000435830.1",
"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": "ENST00000491734.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957His",
"transcript": "ENST00000961732.1",
"protein_id": "ENSP00000631791.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 986,
"cds_start": 2870,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961732.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2804G>A",
"hgvs_p": "p.Arg935His",
"transcript": "ENST00000961738.1",
"protein_id": "ENSP00000631797.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 964,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961738.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2714G>A",
"hgvs_p": "p.Arg905His",
"transcript": "ENST00000879818.1",
"protein_id": "ENSP00000549877.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 934,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879818.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2687G>A",
"hgvs_p": "p.Arg896His",
"transcript": "ENST00000879813.1",
"protein_id": "ENSP00000549872.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 925,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879813.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "ENST00000879821.1",
"protein_id": "ENSP00000549880.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 923,
"cds_start": 2681,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879821.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2636G>A",
"hgvs_p": "p.Arg879His",
"transcript": "ENST00000961736.1",
"protein_id": "ENSP00000631795.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 908,
"cds_start": 2636,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961736.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"transcript": "ENST00000879816.1",
"protein_id": "ENSP00000549875.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 906,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879816.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2591G>A",
"hgvs_p": "p.Arg864His",
"transcript": "ENST00000913121.1",
"protein_id": "ENSP00000583180.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 893,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913121.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2582G>A",
"hgvs_p": "p.Arg861His",
"transcript": "ENST00000961731.1",
"protein_id": "ENSP00000631790.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 890,
"cds_start": 2582,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961731.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Arg859His",
"transcript": "ENST00000879822.1",
"protein_id": "ENSP00000549881.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 888,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879822.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2543G>A",
"hgvs_p": "p.Arg848His",
"transcript": "ENST00000879814.1",
"protein_id": "ENSP00000549873.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 877,
"cds_start": 2543,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879814.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2540G>A",
"hgvs_p": "p.Arg847His",
"transcript": "ENST00000879819.1",
"protein_id": "ENSP00000549878.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 876,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879819.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2501G>A",
"hgvs_p": "p.Arg834His",
"transcript": "ENST00000879815.1",
"protein_id": "ENSP00000549874.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 863,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879815.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2501G>A",
"hgvs_p": "p.Arg834His",
"transcript": "ENST00000961733.1",
"protein_id": "ENSP00000631792.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 863,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961733.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2498G>A",
"hgvs_p": "p.Arg833His",
"transcript": "ENST00000879817.1",
"protein_id": "ENSP00000549876.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 862,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879817.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2459G>A",
"hgvs_p": "p.Arg820His",
"transcript": "ENST00000961737.1",
"protein_id": "ENSP00000631796.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 849,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961737.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2453G>A",
"hgvs_p": "p.Arg818His",
"transcript": "ENST00000879820.1",
"protein_id": "ENSP00000549879.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 847,
"cds_start": 2453,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879820.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXD3",
"gene_hgnc_id": 26023,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791His",
"transcript": "ENST00000961734.1",
"protein_id": "ENSP00000631793.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 820,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
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],
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.355,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2416,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_017820.5",
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"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
}