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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: 2-219158193-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219158193&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM5",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NHEJ1",
"hgnc_id": 25737,
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001377499.1",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000280537",
"hgnc_id": null,
"hgvs_c": "n.*1292G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000318673.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM5,BS1",
"acmg_score": -2,
"allele_count_reference_population": 1140,
"alphamissense_prediction": null,
"alphamissense_score": 0.306,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cernunnos-XLF deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4 O:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.54232257604599,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8020,
"cdna_start": 266,
"cds_end": null,
"cds_length": 900,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024782.3",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356853.10",
"protein_coding": true,
"protein_id": "NP_079058.1",
"strand": false,
"transcript": "NM_024782.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8020,
"cdna_start": 266,
"cds_end": null,
"cds_length": 900,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000356853.10",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024782.3",
"protein_coding": true,
"protein_id": "ENSP00000349313.5",
"strand": false,
"transcript": "ENST00000356853.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000318673.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000280537",
"hgvs_c": "n.*1292G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000320919.3",
"strand": false,
"transcript": "ENST00000318673.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000318673.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000280537",
"hgvs_c": "n.*1292G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000320919.3",
"strand": false,
"transcript": "ENST00000318673.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 321,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": 269,
"cds_end": null,
"cds_length": 966,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881108.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551167.1",
"strand": false,
"transcript": "ENST00000881108.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 316,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 170,
"cds_end": null,
"cds_length": 951,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000409720.5",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387290.1",
"strand": false,
"transcript": "ENST00000409720.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 304,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8035,
"cdna_start": 266,
"cds_end": null,
"cds_length": 915,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001377499.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364428.1",
"strand": false,
"transcript": "NM_001377499.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 304,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 267,
"cds_end": null,
"cds_length": 915,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000426304.6",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394896.2",
"strand": false,
"transcript": "ENST00000426304.6",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 304,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 295,
"cds_end": null,
"cds_length": 915,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929435.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599494.1",
"strand": false,
"transcript": "ENST00000929435.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 304,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": 218,
"cds_end": null,
"cds_length": 915,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929436.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599495.1",
"strand": false,
"transcript": "ENST00000929436.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7970,
"cdna_start": 216,
"cds_end": null,
"cds_length": 900,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001377498.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364427.1",
"strand": false,
"transcript": "NM_001377498.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 216,
"cds_end": null,
"cds_length": 900,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000457600.3",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407201.2",
"strand": false,
"transcript": "ENST00000457600.3",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
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"aa_length": 299,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 560,
"cds_end": null,
"cds_length": 900,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000881109.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551168.1",
"strand": false,
"transcript": "ENST00000881109.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 204,
"cds_end": null,
"cds_length": 900,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929432.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599491.1",
"strand": false,
"transcript": "ENST00000929432.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": 358,
"cds_end": null,
"cds_length": 900,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929437.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599496.1",
"strand": false,
"transcript": "ENST00000929437.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 330,
"cds_end": null,
"cds_length": 900,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929438.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599497.1",
"strand": false,
"transcript": "ENST00000929438.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 310,
"cds_end": null,
"cds_length": 897,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929433.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599492.1",
"strand": false,
"transcript": "ENST00000929433.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 298,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 288,
"cds_end": null,
"cds_length": 897,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000929434.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599493.1",
"strand": false,
"transcript": "ENST00000929434.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 228,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 271,
"cds_end": null,
"cds_length": 687,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000941811.1",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611870.1",
"strand": false,
"transcript": "ENST00000941811.1",
"transcript_support_level": null
},
{
"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": 2113,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000418099.5",
"gene_hgnc_id": 25737,
"gene_symbol": "NHEJ1",
"hgvs_c": "n.170G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408966.1",
"strand": false,
"transcript": "ENST00000418099.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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