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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: 19-8322919-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8322919&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8322919,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198471.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "NM_198471.3",
"protein_id": "NP_940873.2",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330915.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198471.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000330915.7",
"protein_id": "ENSP00000328923.2",
"transcript_support_level": 1,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198471.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330915.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS28",
"gene_hgnc_id": 10418,
"hgvs_c": "c.*664C>T",
"hgvs_p": null,
"transcript": "NM_001031.5",
"protein_id": "NP_001022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000600659.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS28",
"gene_hgnc_id": 10418,
"hgvs_c": "c.*664C>T",
"hgvs_p": null,
"transcript": "ENST00000600659.3",
"protein_id": "ENSP00000472469.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600659.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2476G>A",
"hgvs_p": "p.Glu826Lys",
"transcript": "ENST00000868864.1",
"protein_id": "ENSP00000538923.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 851,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868864.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2461G>A",
"hgvs_p": "p.Glu821Lys",
"transcript": "ENST00000868865.1",
"protein_id": "ENSP00000538924.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 846,
"cds_start": 2461,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868865.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2443G>A",
"hgvs_p": "p.Glu815Lys",
"transcript": "ENST00000948268.1",
"protein_id": "ENSP00000618327.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 840,
"cds_start": 2443,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948268.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2428G>A",
"hgvs_p": "p.Glu810Lys",
"transcript": "ENST00000948263.1",
"protein_id": "ENSP00000618322.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 835,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948263.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000868859.1",
"protein_id": "ENSP00000538918.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868859.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000868861.1",
"protein_id": "ENSP00000538920.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868861.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000868862.1",
"protein_id": "ENSP00000538921.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868862.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000868866.1",
"protein_id": "ENSP00000538925.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868866.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000868867.1",
"protein_id": "ENSP00000538926.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868867.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000868869.1",
"protein_id": "ENSP00000538928.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868869.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000868870.1",
"protein_id": "ENSP00000538929.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868870.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000930064.1",
"protein_id": "ENSP00000600123.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930064.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000930065.1",
"protein_id": "ENSP00000600124.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930065.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000948262.1",
"protein_id": "ENSP00000618321.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948262.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000948264.1",
"protein_id": "ENSP00000618323.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948264.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000948265.1",
"protein_id": "ENSP00000618324.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948265.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Glu796Lys",
"transcript": "ENST00000948266.1",
"protein_id": "ENSP00000618325.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 821,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948266.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANK3",
"gene_hgnc_id": 24796,
"hgvs_c": "c.2299G>A",
"hgvs_p": "p.Glu767Lys",
"transcript": "ENST00000948269.1",
"protein_id": "ENSP00000618328.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 792,
"cds_start": 2299,
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"cds_length": 2379,
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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{
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],
"verdict": "Likely_benign",
"transcript": "NM_198471.3",
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{
"score": -8,
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"BS2"
],
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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
}