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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: 1-24652579-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=24652579&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SRRM1",
"hgnc_id": 16638,
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001366595.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.271,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5713786482810974,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 904,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2715,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_005839.4",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000323848.14",
"protein_coding": true,
"protein_id": "NP_005830.2",
"strand": true,
"transcript": "NM_005839.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 904,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2715,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000323848.14",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005839.4",
"protein_coding": true,
"protein_id": "ENSP00000326261.8",
"strand": true,
"transcript": "ENST00000323848.14",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 680,
"aa_ref": "R",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 2044,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000596378.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471084.1",
"strand": true,
"transcript": "ENST00000596378.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 936,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2811,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928582.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598641.1",
"strand": true,
"transcript": "ENST00000928582.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 933,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 945,
"cds_end": null,
"cds_length": 2802,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874375.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544434.1",
"strand": true,
"transcript": "ENST00000874375.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 940,
"cds_end": null,
"cds_length": 2772,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928572.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598631.1",
"strand": true,
"transcript": "ENST00000928572.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 922,
"aa_ref": "R",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 940,
"cds_end": null,
"cds_length": 2769,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874370.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544429.1",
"strand": true,
"transcript": "ENST00000874370.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 925,
"cds_end": null,
"cds_length": 2766,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928571.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598630.1",
"strand": true,
"transcript": "ENST00000928571.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 920,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3794,
"cdna_start": 922,
"cds_end": null,
"cds_length": 2763,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928575.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598634.1",
"strand": true,
"transcript": "ENST00000928575.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3769,
"cdna_start": 897,
"cds_end": null,
"cds_length": 2760,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874376.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544435.1",
"strand": true,
"transcript": "ENST00000874376.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3777,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2757,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001366595.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353524.1",
"strand": true,
"transcript": "NM_001366595.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 918,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3841,
"cdna_start": 998,
"cds_end": null,
"cds_length": 2757,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000705662.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516157.1",
"strand": true,
"transcript": "ENST00000705662.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 917,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3774,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2754,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001366569.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353498.1",
"strand": true,
"transcript": "NM_001366569.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 917,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": 998,
"cds_end": null,
"cds_length": 2754,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000705663.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516158.1",
"strand": true,
"transcript": "ENST00000705663.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 917,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3865,
"cdna_start": 997,
"cds_end": null,
"cds_length": 2754,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928565.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598624.1",
"strand": true,
"transcript": "ENST00000928565.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 916,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3771,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2751,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001303448.2",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290377.1",
"strand": true,
"transcript": "NM_001303448.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 916,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 923,
"cds_end": null,
"cds_length": 2751,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000874372.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544431.1",
"strand": true,
"transcript": "ENST00000874372.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 896,
"cds_end": null,
"cds_length": 2748,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001366575.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353504.1",
"strand": true,
"transcript": "NM_001366575.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 915,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 925,
"cds_end": null,
"cds_length": 2748,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000705682.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516160.1",
"strand": true,
"transcript": "ENST00000705682.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 915,
"aa_ref": "R",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3797,
"cdna_start": 925,
"cds_end": null,
"cds_length": 2748,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928570.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Arg291Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598629.1",
"strand": true,
"transcript": "ENST00000928570.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 914,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 884,
"cds_end": null,
"cds_length": 2745,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928581.1",
"gene_hgnc_id": 16638,
"gene_symbol": "SRRM1",
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Arg287Cys",
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