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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: 18-48664499-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=48664499&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTIF",
"hgnc_id": 23925,
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001142397.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.1794,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20108339190483093,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5765,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1797,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_014772.3",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000256413.8",
"protein_coding": true,
"protein_id": "NP_055587.1",
"strand": true,
"transcript": "NM_014772.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5765,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1797,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000256413.8",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014772.3",
"protein_coding": true,
"protein_id": "ENSP00000256413.3",
"strand": true,
"transcript": "ENST00000256413.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1803,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000382998.8",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372459.3",
"strand": true,
"transcript": "ENST00000382998.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1851,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865538.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535597.1",
"strand": true,
"transcript": "ENST00000865538.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4066,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1851,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000959044.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629103.1",
"strand": true,
"transcript": "ENST00000959044.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1851,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000959046.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629105.1",
"strand": true,
"transcript": "ENST00000959046.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1851,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959048.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629107.1",
"strand": true,
"transcript": "ENST00000959048.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1851,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959053.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629112.1",
"strand": true,
"transcript": "ENST00000959053.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1845,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865532.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535591.1",
"strand": true,
"transcript": "ENST00000865532.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 803,
"cds_end": null,
"cds_length": 1845,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000865534.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535593.1",
"strand": true,
"transcript": "ENST00000865534.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1845,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959049.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629108.1",
"strand": true,
"transcript": "ENST00000959049.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3018,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1845,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959051.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629110.1",
"strand": true,
"transcript": "ENST00000959051.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2917,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1845,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959052.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629111.1",
"strand": true,
"transcript": "ENST00000959052.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 613,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4359,
"cdna_start": 562,
"cds_end": null,
"cds_length": 1842,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959042.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629101.1",
"strand": true,
"transcript": "ENST00000959042.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 613,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1842,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959050.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629109.1",
"strand": true,
"transcript": "ENST00000959050.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5845,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1803,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001142397.2",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135869.1",
"strand": true,
"transcript": "NM_001142397.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5797,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1803,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865528.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535587.1",
"strand": true,
"transcript": "ENST00000865528.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 827,
"cds_end": null,
"cds_length": 1803,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865535.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535594.1",
"strand": true,
"transcript": "ENST00000865535.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 530,
"cds_end": null,
"cds_length": 1803,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865539.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535598.1",
"strand": true,
"transcript": "ENST00000865539.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1803,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000959055.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629114.1",
"strand": true,
"transcript": "ENST00000959055.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5862,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1797,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000865529.1",
"gene_hgnc_id": 23925,
"gene_symbol": "CTIF",
"hgvs_c": "c.379C>T",
"hgvs_p": "p.Arg127Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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