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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: 1-94517078-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=94517078&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ABCD3",
"hgnc_id": 67,
"hgvs_c": "c.1929C>G",
"hgvs_p": "p.Gly643Gly",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_002858.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 163,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.44999998807907104,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 659,
"aa_ref": "G",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_002858.4",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1929C>G",
"hgvs_p": "p.Gly643Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370214.9",
"protein_coding": true,
"protein_id": "NP_002849.1",
"strand": true,
"transcript": "NM_002858.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 659,
"aa_ref": "G",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000370214.9",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1929C>G",
"hgvs_p": "p.Gly643Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002858.4",
"protein_coding": true,
"protein_id": "ENSP00000359233.4",
"strand": true,
"transcript": "ENST00000370214.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000484213.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "n.2779C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484213.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 683,
"aa_ref": "G",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 2052,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000866889.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.2001C>G",
"hgvs_p": "p.Gly667Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536948.1",
"strand": true,
"transcript": "ENST00000866889.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 683,
"aa_ref": "G",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3655,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 2052,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000966694.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.2001C>G",
"hgvs_p": "p.Gly667Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636753.1",
"strand": true,
"transcript": "ENST00000966694.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 673,
"aa_ref": "G",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1971,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000866893.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1971C>G",
"hgvs_p": "p.Gly657Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536952.1",
"strand": true,
"transcript": "ENST00000866893.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1956,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000966696.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1956C>G",
"hgvs_p": "p.Gly652Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636755.1",
"strand": true,
"transcript": "ENST00000966696.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 659,
"aa_ref": "G",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000647998.2",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1929C>G",
"hgvs_p": "p.Gly643Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497921.2",
"strand": true,
"transcript": "ENST00000647998.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 656,
"aa_ref": "G",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1920,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000866897.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1920C>G",
"hgvs_p": "p.Gly640Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536956.1",
"strand": true,
"transcript": "ENST00000866897.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 640,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1872,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000966700.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1872C>G",
"hgvs_p": "p.Gly624Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636759.1",
"strand": true,
"transcript": "ENST00000966700.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 637,
"aa_ref": "G",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3357,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000866894.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1863C>G",
"hgvs_p": "p.Gly621Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536953.1",
"strand": true,
"transcript": "ENST00000866894.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 626,
"aa_ref": "G",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3345,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1830,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000966699.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1830C>G",
"hgvs_p": "p.Gly610Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636758.1",
"strand": true,
"transcript": "ENST00000966699.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 606,
"aa_ref": "G",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 1868,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000966693.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1770C>G",
"hgvs_p": "p.Gly590Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636752.1",
"strand": true,
"transcript": "ENST00000966693.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 573,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1671,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000866896.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1671C>G",
"hgvs_p": "p.Gly557Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536955.1",
"strand": true,
"transcript": "ENST00000866896.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 573,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1671,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000966695.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1671C>G",
"hgvs_p": "p.Gly557Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636754.1",
"strand": true,
"transcript": "ENST00000966695.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000866890.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1599C>G",
"hgvs_p": "p.Gly533Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536949.1",
"strand": true,
"transcript": "ENST00000866890.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000866892.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1599C>G",
"hgvs_p": "p.Gly533Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536951.1",
"strand": true,
"transcript": "ENST00000866892.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 506,
"aa_ref": "G",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3110,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1470,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000966697.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1470C>G",
"hgvs_p": "p.Gly490Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636756.1",
"strand": true,
"transcript": "ENST00000966697.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 496,
"aa_ref": "G",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1440,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000866891.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1440C>G",
"hgvs_p": "p.Gly480Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536950.1",
"strand": true,
"transcript": "ENST00000866891.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 406,
"aa_ref": "G",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 1221,
"cds_start": 1170,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000966698.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.1170C>G",
"hgvs_p": "p.Gly390Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636757.1",
"strand": true,
"transcript": "ENST00000966698.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 310,
"aa_ref": "G",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 933,
"cds_start": 882,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000966692.1",
"gene_hgnc_id": 67,
"gene_symbol": "ABCD3",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Gly294Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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