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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: 2-159729106-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159729106&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MARCHF7",
"hgnc_id": 17393,
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_022826.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 327,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001282805.2",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409175.6",
"protein_coding": true,
"protein_id": "NP_001269734.1",
"strand": true,
"transcript": "NM_001282805.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 327,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409175.6",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001282805.2",
"protein_coding": true,
"protein_id": "ENSP00000386830.1",
"strand": true,
"transcript": "ENST00000409175.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5922,
"cdna_start": 206,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000259050.8",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000259050.3",
"strand": true,
"transcript": "ENST00000259050.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 739,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3618,
"cdna_start": 252,
"cds_end": null,
"cds_length": 2220,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966712.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636771.1",
"strand": true,
"transcript": "ENST00000966712.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 235,
"cds_end": null,
"cds_length": 2142,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914861.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584920.1",
"strand": true,
"transcript": "ENST00000914861.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 713,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3459,
"cdna_start": 173,
"cds_end": null,
"cds_length": 2142,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000966711.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636770.1",
"strand": true,
"transcript": "ENST00000966711.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 296,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001376234.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363163.1",
"strand": true,
"transcript": "NM_001376234.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 382,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001376235.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363164.1",
"strand": true,
"transcript": "NM_001376235.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3657,
"cdna_start": 395,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001376236.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363165.1",
"strand": true,
"transcript": "NM_001376236.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 307,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001376237.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363166.1",
"strand": true,
"transcript": "NM_001376237.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 241,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001376238.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363167.1",
"strand": true,
"transcript": "NM_001376238.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 340,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001376239.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363168.1",
"strand": true,
"transcript": "NM_001376239.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 254,
"cds_end": null,
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"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001376240.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363169.1",
"strand": true,
"transcript": "NM_001376240.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 419,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001376241.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363170.1",
"strand": true,
"transcript": "NM_001376241.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3639,
"cdna_start": 377,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001376242.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363171.1",
"strand": true,
"transcript": "NM_001376242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5915,
"cdna_start": 199,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_022826.4",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_073737.1",
"strand": true,
"transcript": "NM_022826.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5581,
"cdna_start": 419,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856569.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526628.1",
"strand": true,
"transcript": "ENST00000856569.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 704,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4256,
"cdna_start": 604,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000856570.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526629.1",
"strand": true,
"transcript": "ENST00000856570.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 271,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000856571.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526630.1",
"strand": true,
"transcript": "ENST00000856571.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 679,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856572.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526631.1",
"strand": true,
"transcript": "ENST00000856572.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 704,
"aa_ref": "S",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 698,
"cds_end": null,
"cds_length": 2115,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856573.1",
"gene_hgnc_id": 17393,
"gene_symbol": "MARCHF7",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Ser28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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