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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: 2-47512394-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47512394&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47512394,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001406674.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "ENST00000406134.5",
"protein_id": "ENSP00000384199.1",
"transcript_support_level": 1,
"aa_start": 909,
"aa_end": null,
"aa_length": 921,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406134.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK12",
"gene_hgnc_id": 6274,
"hgvs_c": "c.*8513C>T",
"hgvs_p": null,
"transcript": "NM_022055.2",
"protein_id": "NP_071338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327876.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022055.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNK12",
"gene_hgnc_id": 6274,
"hgvs_c": "c.*8513C>T",
"hgvs_p": null,
"transcript": "ENST00000327876.5",
"protein_id": "ENSP00000327611.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022055.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327876.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406674.1",
"protein_id": "NP_001393603.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2726,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406674.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406631.1",
"protein_id": "NP_001393560.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 979,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406631.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406632.1",
"protein_id": "NP_001393561.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 976,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406632.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406633.1",
"protein_id": "NP_001393562.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 975,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406633.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406634.1",
"protein_id": "NP_001393563.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 974,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406634.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406635.1",
"protein_id": "NP_001393564.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 969,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406635.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2693G>A",
"hgvs_p": "p.Arg898Gln",
"transcript": "NM_001406636.1",
"protein_id": "NP_001393565.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 958,
"cds_start": 2693,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406636.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406637.1",
"protein_id": "NP_001393566.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 957,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406637.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406639.1",
"protein_id": "NP_001393568.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 945,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406639.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406640.1",
"protein_id": "NP_001393569.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 945,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406640.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406642.1",
"protein_id": "NP_001393571.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 929,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406642.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406643.1",
"protein_id": "NP_001393572.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 926,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406643.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406644.1",
"protein_id": "NP_001393573.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 924,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406644.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "ENST00000645506.1",
"protein_id": "ENSP00000495455.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 924,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645506.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406645.1",
"protein_id": "NP_001393574.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 921,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406645.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln",
"transcript": "NM_001406646.1",
"protein_id": "NP_001393575.1",
"transcript_support_level": null,
"aa_start": 909,
"aa_end": null,
"aa_length": 918,
"cds_start": 2726,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406646.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Arg859Gln",
"transcript": "NM_001406647.1",
"protein_id": "NP_001393576.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 903,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406647.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Arg859Gln",
"transcript": "NM_001406651.1",
"protein_id": "NP_001393580.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 874,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406651.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSH2",
"gene_hgnc_id": 7325,
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Arg859Gln",
"transcript": "NM_001406652.1",
"protein_id": "NP_001393581.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 871,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2616,
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{
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{
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],
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"computational_score_selected": 0.0035688579082489014,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.088,
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001406674.1",
"gene_symbol": "MSH2",
"hgnc_id": 7325,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2726G>A",
"hgvs_p": "p.Arg909Gln"
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{
"score": -9,
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"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022055.2",
"gene_symbol": "KCNK12",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}