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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: 3-185645614-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=185645614&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IGF2BP2",
"hgnc_id": 28867,
"hgvs_c": "c.1735C>T",
"hgvs_p": "p.Arg579Cys",
"inheritance_mode": "Unknown",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001291869.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.9599,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"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": "Pathogenic",
"computational_score_selected": 0.7982997894287109,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 599,
"aa_ref": "R",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_006548.6",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382199.7",
"protein_coding": true,
"protein_id": "NP_006539.3",
"strand": false,
"transcript": "NM_006548.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 599,
"aa_ref": "R",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000382199.7",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Arg573Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006548.6",
"protein_coding": true,
"protein_id": "ENSP00000371634.3",
"strand": false,
"transcript": "ENST00000382199.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000346192.7",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Arg530Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000320204.5",
"strand": false,
"transcript": "ENST00000346192.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 536,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000421047.3",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413787.3",
"strand": false,
"transcript": "ENST00000421047.3",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 662,
"aa_ref": "R",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000881591.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551650.1",
"strand": false,
"transcript": "ENST00000881591.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4301,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1735,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001291869.3",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1735C>T",
"hgvs_p": "p.Arg579Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278798.1",
"strand": false,
"transcript": "NM_001291869.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 1787,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1735,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000457616.6",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1735C>T",
"hgvs_p": "p.Arg579Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410242.2",
"strand": false,
"transcript": "ENST00000457616.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000921331.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591390.1",
"strand": false,
"transcript": "ENST00000921331.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 576,
"aa_ref": "R",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921333.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591392.1",
"strand": false,
"transcript": "ENST00000921333.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1642,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000881590.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.Arg548Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551649.1",
"strand": false,
"transcript": "ENST00000881590.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 562,
"aa_ref": "R",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1606,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000881588.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1606C>T",
"hgvs_p": "p.Arg536Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551647.1",
"strand": false,
"transcript": "ENST00000881588.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4154,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001007225.3",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Arg530Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007226.1",
"strand": false,
"transcript": "NM_001007225.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3278,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1585,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000881589.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551648.1",
"strand": false,
"transcript": "ENST00000881589.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 555,
"aa_ref": "R",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1585,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921325.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591384.1",
"strand": false,
"transcript": "ENST00000921325.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 554,
"aa_ref": "R",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3471,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1582,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000955762.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Arg528Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625821.1",
"strand": false,
"transcript": "ENST00000955762.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1552,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000921327.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591386.1",
"strand": false,
"transcript": "ENST00000921327.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 542,
"aa_ref": "R",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4111,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001291872.3",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Arg516Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278801.1",
"strand": false,
"transcript": "NM_001291872.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 536,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1528,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001291873.3",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278802.1",
"strand": false,
"transcript": "NM_001291873.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 512,
"aa_ref": "R",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000921326.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591385.1",
"strand": false,
"transcript": "ENST00000921326.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 502,
"aa_ref": "R",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1426,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000921337.1",
"gene_hgnc_id": 28867,
"gene_symbol": "IGF2BP2",
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Arg476Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591396.1",
"strand": false,
"transcript": "ENST00000921337.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3964,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001291874.3",
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