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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: 17-70132229-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=70132229&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 70132229,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018658.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "NM_170741.4",
"protein_id": "NP_733937.3",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": "ENST00000392671.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170741.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000392671.6",
"protein_id": "ENSP00000376439.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": "NM_170741.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392671.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000283936.5",
"protein_id": "ENSP00000283936.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283936.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000392670.5",
"protein_id": "ENSP00000376438.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392670.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "NM_001270422.2",
"protein_id": "NP_001257351.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270422.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "NM_001291622.3",
"protein_id": "NP_001278551.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291622.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "NM_001291623.2",
"protein_id": "NP_001278552.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291623.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "NM_001291624.1",
"protein_id": "NP_001278553.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291624.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "NM_001291625.1",
"protein_id": "NP_001278554.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 4151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291625.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "NM_018658.4",
"protein_id": "NP_061128.3",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018658.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "NM_170742.3",
"protein_id": "NP_733938.3",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170742.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000589377.1",
"protein_id": "ENSP00000465967.1",
"transcript_support_level": 5,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589377.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000615244.4",
"protein_id": "ENSP00000479817.1",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615244.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858860.1",
"protein_id": "ENSP00000528919.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858860.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858861.1",
"protein_id": "ENSP00000528920.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858861.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858862.1",
"protein_id": "ENSP00000528921.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858862.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858863.1",
"protein_id": "ENSP00000528922.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858863.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858864.1",
"protein_id": "ENSP00000528923.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858864.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858865.1",
"protein_id": "ENSP00000528924.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858865.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858866.1",
"protein_id": "ENSP00000528925.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858866.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858867.1",
"protein_id": "ENSP00000528926.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858867.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ16",
"gene_hgnc_id": 6262,
"hgvs_c": "c.142A>C",
"hgvs_p": "p.Lys48Gln",
"transcript": "ENST00000858868.1",
"protein_id": "ENSP00000528927.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 418,
"cds_start": 142,
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{
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],
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"dbsnp": "rs142011800",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40722334384918213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.702,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018658.4",
"gene_symbol": "KCNJ16",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}