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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: 11-64807675-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64807675&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MEN1",
"hgnc_id": 7010,
"hgvs_c": "c.675G>T",
"hgvs_p": "p.Trp225Cys",
"inheritance_mode": "AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001407150.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9998,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " type 1,Multiple endocrine neoplasia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9892988204956055,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 610,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1833,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370259.2",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000450708.7",
"protein_coding": true,
"protein_id": "NP_001357188.2",
"strand": false,
"transcript": "NM_001370259.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 610,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1833,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000450708.7",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370259.2",
"protein_coding": true,
"protein_id": "ENSP00000394933.3",
"strand": false,
"transcript": "ENST00000450708.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 610,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1833,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000312049.11",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308975.6",
"strand": false,
"transcript": "ENST00000312049.11",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 610,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1833,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000424912.2",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388016.2",
"strand": false,
"transcript": "ENST00000424912.2",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 610,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 1833,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000429702.6",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402752.2",
"strand": false,
"transcript": "ENST00000429702.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 575,
"aa_ref": "W",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1728,
"cds_start": 555,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000377321.5",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Trp185Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366538.1",
"strand": false,
"transcript": "ENST00000377321.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 657,
"aa_ref": "W",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1974,
"cds_start": 675,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407150.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.675G>T",
"hgvs_p": "p.Trp225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394079.1",
"strand": false,
"transcript": "NM_001407150.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 657,
"aa_ref": "W",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1974,
"cds_start": 675,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917701.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.675G>T",
"hgvs_p": "p.Trp225Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587760.1",
"strand": false,
"transcript": "ENST00000917701.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 652,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370251.2",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357180.2",
"strand": false,
"transcript": "NM_001370251.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 652,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407142.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394071.1",
"strand": false,
"transcript": "NM_001407142.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 652,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3084,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407143.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394072.1",
"strand": false,
"transcript": "NM_001407143.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 652,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407144.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394073.1",
"strand": false,
"transcript": "NM_001407144.1",
"transcript_support_level": null
},
{
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"aa_length": 652,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000672304.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500585.1",
"strand": false,
"transcript": "ENST00000672304.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 652,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864595.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534654.1",
"strand": false,
"transcript": "ENST00000864595.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "W",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864596.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534655.1",
"strand": false,
"transcript": "ENST00000864596.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 652,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000864598.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534657.1",
"strand": false,
"transcript": "ENST00000864598.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 652,
"aa_ref": "W",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1959,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917700.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587759.1",
"strand": false,
"transcript": "ENST00000917700.1",
"transcript_support_level": null
},
{
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"aa_ref": "W",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1866,
"cds_start": 660,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962403.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.660G>T",
"hgvs_p": "p.Trp220Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632462.1",
"strand": false,
"transcript": "ENST00000962403.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 617,
"aa_ref": "W",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1854,
"cds_start": 555,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407151.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Trp185Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394080.1",
"strand": false,
"transcript": "NM_001407151.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 617,
"aa_ref": "W",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1854,
"cds_start": 555,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917704.1",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Trp185Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587763.1",
"strand": false,
"transcript": "ENST00000917704.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 615,
"aa_ref": "W",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1848,
"cds_start": 675,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000244.4",
"gene_hgnc_id": 7010,
"gene_symbol": "MEN1",
"hgvs_c": "c.675G>T",
"hgvs_p": "p.Trp225Cys",
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