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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: 3-101801364-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=101801364&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": "NXPE3",
"hgnc_id": 28238,
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_145037.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.1951,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "3",
"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": 0.11845141649246216,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8568,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_145037.4",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000273347.10",
"protein_coding": true,
"protein_id": "NP_659474.1",
"strand": true,
"transcript": "NM_145037.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8568,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000273347.10",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145037.4",
"protein_coding": true,
"protein_id": "ENSP00000273347.5",
"strand": true,
"transcript": "ENST00000273347.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000477909.5",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418369.1",
"strand": true,
"transcript": "ENST00000477909.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8691,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001134456.2",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001127928.1",
"strand": true,
"transcript": "NM_001134456.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8729,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001348990.2",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335919.1",
"strand": true,
"transcript": "NM_001348990.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8725,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001348991.2",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335920.1",
"strand": true,
"transcript": "NM_001348991.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8820,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001348992.2",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335921.1",
"strand": true,
"transcript": "NM_001348992.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8735,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001348993.2",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335922.1",
"strand": true,
"transcript": "NM_001348993.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8786,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001348994.2",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335923.1",
"strand": true,
"transcript": "NM_001348994.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8572,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001348995.2",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335924.1",
"strand": true,
"transcript": "NM_001348995.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3117,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000474165.6",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419667.2",
"strand": true,
"transcript": "ENST00000474165.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4757,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000487830.2",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515931.1",
"strand": true,
"transcript": "ENST00000487830.2",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8074,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000491511.6",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417485.1",
"strand": true,
"transcript": "ENST00000491511.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4607,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000495842.6",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418381.2",
"strand": true,
"transcript": "ENST00000495842.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000704530.1",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515919.1",
"strand": true,
"transcript": "ENST00000704530.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000704532.1",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515920.1",
"strand": true,
"transcript": "ENST00000704532.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000704539.1",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515927.1",
"strand": true,
"transcript": "ENST00000704539.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000704551.1",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515939.1",
"strand": true,
"transcript": "ENST00000704551.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": 473,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000704552.1",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515940.1",
"strand": true,
"transcript": "ENST00000704552.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4301,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879315.1",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549374.1",
"strand": true,
"transcript": "ENST00000879315.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1680,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000925277.1",
"gene_hgnc_id": 28238,
"gene_symbol": "NXPE3",
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"intron_rank": null,
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