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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: 10-97460141-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97460141&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MMS19",
"hgnc_id": 13824,
"hgvs_c": "c.2678G>T",
"hgvs_p": "p.Arg893Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001351356.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 52,
"alphamissense_prediction": null,
"alphamissense_score": 0.218,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5891571044921875,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_022362.5",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438925.7",
"protein_coding": true,
"protein_id": "NP_071757.4",
"strand": false,
"transcript": "NM_022362.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000438925.7",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022362.5",
"protein_coding": true,
"protein_id": "ENSP00000412698.2",
"strand": false,
"transcript": "ENST00000438925.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 2632,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000370782.6",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359818.1",
"strand": false,
"transcript": "ENST00000370782.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 987,
"aa_ref": "R",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3555,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2432,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000355839.10",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2432G>T",
"hgvs_p": "p.Arg811Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348097.6",
"strand": false,
"transcript": "ENST00000355839.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000415383.5",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "n.*2374G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395045.1",
"strand": false,
"transcript": "ENST00000415383.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000415383.5",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "n.*2374G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395045.1",
"strand": false,
"transcript": "ENST00000415383.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1074,
"aa_ref": "R",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3601,
"cdna_start": 2701,
"cds_end": null,
"cds_length": 3225,
"cds_start": 2693,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000896606.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2693G>T",
"hgvs_p": "p.Arg898Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566665.1",
"strand": false,
"transcript": "ENST00000896606.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "R",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 3210,
"cds_start": 2678,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001351356.2",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2678G>T",
"hgvs_p": "p.Arg893Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338285.1",
"strand": false,
"transcript": "NM_001351356.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "R",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 3204,
"cds_start": 2672,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000933291.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2672G>T",
"hgvs_p": "p.Arg891Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603350.1",
"strand": false,
"transcript": "ENST00000933291.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 2604,
"cds_end": null,
"cds_length": 3111,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896592.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566651.1",
"strand": false,
"transcript": "ENST00000896592.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "R",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2558,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896590.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566649.1",
"strand": false,
"transcript": "ENST00000896590.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "R",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 2595,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896597.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2576G>T",
"hgvs_p": "p.Arg859Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566656.1",
"strand": false,
"transcript": "ENST00000896597.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1032,
"aa_ref": "R",
"aa_start": 856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 2596,
"cds_end": null,
"cds_length": 3099,
"cds_start": 2567,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896593.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2567G>T",
"hgvs_p": "p.Arg856Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566652.1",
"strand": false,
"transcript": "ENST00000896593.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1031,
"aa_ref": "R",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3469,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 3096,
"cds_start": 2564,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896604.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2564G>T",
"hgvs_p": "p.Arg855Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566663.1",
"strand": false,
"transcript": "ENST00000896604.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3568,
"cdna_start": 2668,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001289405.2",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276334.1",
"strand": false,
"transcript": "NM_001289405.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3618,
"cdna_start": 2721,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000896588.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566647.1",
"strand": false,
"transcript": "ENST00000896588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "R",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3530,
"cdna_start": 2630,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000933288.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2561G>T",
"hgvs_p": "p.Arg854Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603347.1",
"strand": false,
"transcript": "ENST00000933288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1029,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3753,
"cdna_start": 2612,
"cds_end": null,
"cds_length": 3090,
"cds_start": 2558,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896589.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566648.1",
"strand": false,
"transcript": "ENST00000896589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1027,
"aa_ref": "R",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3471,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 3084,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896599.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2534G>T",
"hgvs_p": "p.Arg845Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566658.1",
"strand": false,
"transcript": "ENST00000896599.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "R",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 2568,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2549,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896600.1",
"gene_hgnc_id": 13824,
"gene_symbol": "MMS19",
"hgvs_c": "c.2549G>T",
"hgvs_p": "p.Arg850Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566659.1",
"strand": false,
"transcript": "ENST00000896600.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1026,
"aa_ref": "R",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 3081,
"cds_start": 2549,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896607.1",
"gene_hgnc_id": 13824,
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