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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: 2-47429920-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47429920&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PM1",
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MSH2",
"hgnc_id": 7325,
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -14,
"transcript": "NM_001406674.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6_Very_Strong,BS1",
"acmg_score": -14,
"allele_count_reference_population": 326,
"alphamissense_prediction": null,
"alphamissense_score": 0.0811,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Breast and/or ovarian cancer,Carcinoma of colon,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,Hereditary nonpolyposis colorectal neoplasms,Lynch syndrome,Lynch syndrome 1,Mismatch repair cancer syndrome 2,Muir-Torré syndrome,not provided,not specified",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:8 B:8 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00787496566772461,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 934,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2805,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000251.3",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233146.7",
"protein_coding": true,
"protein_id": "NP_000242.1",
"strand": true,
"transcript": "NM_000251.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 934,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2805,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000233146.7",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000251.3",
"protein_coding": true,
"protein_id": "ENSP00000233146.2",
"strand": true,
"transcript": "ENST00000233146.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 921,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000406134.5",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384199.1",
"strand": true,
"transcript": "ENST00000406134.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5813,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 3045,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406674.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393603.1",
"strand": true,
"transcript": "NM_001406674.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 979,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2940,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406631.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393560.1",
"strand": true,
"transcript": "NM_001406631.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 976,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2931,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406632.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393561.1",
"strand": true,
"transcript": "NM_001406632.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 975,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3134,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2928,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406633.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393562.1",
"strand": true,
"transcript": "NM_001406633.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 974,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5693,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2925,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406634.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393563.1",
"strand": true,
"transcript": "NM_001406634.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 969,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2910,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406635.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393564.1",
"strand": true,
"transcript": "NM_001406635.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 958,
"aa_ref": "Q",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 2877,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406636.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1222C>A",
"hgvs_p": "p.Gln408Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393565.1",
"strand": true,
"transcript": "NM_001406636.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 957,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4436,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2874,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406637.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393566.1",
"strand": true,
"transcript": "NM_001406637.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 951,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 2856,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000918107.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1306C>A",
"hgvs_p": "p.Gln436Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588166.1",
"strand": true,
"transcript": "ENST00000918107.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10637,
"cdna_start": 1291,
"cds_end": null,
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"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406638.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393567.1",
"strand": true,
"transcript": "NM_001406638.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1358,
"cds_end": null,
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"cds_start": 1255,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 7,
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"feature": "ENST00000946816.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000616875.1",
"strand": true,
"transcript": "ENST00000946816.1",
"transcript_support_level": null
},
{
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"aa_length": 945,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2838,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406639.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393568.1",
"strand": true,
"transcript": "NM_001406639.1",
"transcript_support_level": null
},
{
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"aa_length": 945,
"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 2838,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406640.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393569.1",
"strand": true,
"transcript": "NM_001406640.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406641.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001393570.1",
"strand": true,
"transcript": "NM_001406641.1",
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},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1280,
"cds_end": null,
"cds_length": 2805,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910408.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580467.1",
"strand": true,
"transcript": "ENST00000910408.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1353,
"cds_end": null,
"cds_length": 2802,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910409.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1252C>A",
"hgvs_p": "p.Gln418Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580468.1",
"strand": true,
"transcript": "ENST00000910409.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 931,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 1304,
"cds_end": null,
"cds_length": 2796,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918103.1",
"gene_hgnc_id": 7325,
"gene_symbol": "MSH2",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Gln419Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588162.1",
"strand": true,
"transcript": "ENST00000918103.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 929,
"aa_ref": "Q",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
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