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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: 1-109280783-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109280783&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PSRC1",
"hgnc_id": 24472,
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001363309.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 150,
"alphamissense_prediction": null,
"alphamissense_score": 0.1029,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "1",
"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": 0.07633507251739502,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001032291.3",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369909.7",
"protein_coding": true,
"protein_id": "NP_001027462.1",
"strand": false,
"transcript": "NM_001032291.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369909.7",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001032291.3",
"protein_coding": true,
"protein_id": "ENSP00000358925.2",
"strand": false,
"transcript": "ENST00000369909.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369907.7",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358923.3",
"strand": false,
"transcript": "ENST00000369907.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 310,
"aa_ref": "T",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1584,
"cdna_start": 883,
"cds_end": null,
"cds_length": 933,
"cds_start": 797,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369904.7",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.797C>T",
"hgvs_p": "p.Thr266Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358920.3",
"strand": false,
"transcript": "ENST00000369904.7",
"transcript_support_level": 1
},
{
"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": 1870,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000492431.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "n.1180C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000492431.1",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363309.2",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350238.1",
"strand": false,
"transcript": "NM_001363309.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394005.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380934.1",
"strand": false,
"transcript": "NM_001394005.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1826,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409138.6",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474667.1",
"strand": false,
"transcript": "ENST00000409138.6",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902367.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572426.1",
"strand": false,
"transcript": "ENST00000902367.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902371.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572430.1",
"strand": false,
"transcript": "ENST00000902371.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902373.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572432.1",
"strand": false,
"transcript": "ENST00000902373.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902374.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572433.1",
"strand": false,
"transcript": "ENST00000902374.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 363,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916111.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586170.1",
"strand": false,
"transcript": "ENST00000916111.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916119.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586178.1",
"strand": false,
"transcript": "ENST00000916119.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 363,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1808,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1092,
"cds_start": 988,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954359.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.988C>T",
"hgvs_p": "p.His330Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624418.1",
"strand": false,
"transcript": "ENST00000954359.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001394002.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380931.1",
"strand": false,
"transcript": "NM_001394002.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_032636.8",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116025.1",
"strand": false,
"transcript": "NM_032636.8",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369903.6",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358919.2",
"strand": false,
"transcript": "ENST00000369903.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409267.5",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386323.1",
"strand": false,
"transcript": "ENST00000409267.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902365.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572424.1",
"strand": false,
"transcript": "ENST00000902365.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 1002,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902366.1",
"gene_hgnc_id": 24472,
"gene_symbol": "PSRC1",
"hgvs_c": "c.898C>T",
"hgvs_p": "p.His300Tyr",
"intron_rank": null,
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