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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: 7-5977714-ACT-GCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5977714&ref=ACT&alt=GCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1"
],
"effects": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"gene_symbol": "PMS2",
"hgnc_id": 9122,
"hgvs_c": "c.2175-2_2175delAGTinsGGC",
"hgvs_p": "p.726",
"inheritance_mode": "AR,AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001406871.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 862,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5093,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000535.7",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2317_2319delAGTinsGGC",
"hgvs_p": "p.Ser773Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265849.12",
"protein_coding": true,
"protein_id": "NP_000526.2",
"strand": false,
"transcript": "NM_000535.7",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 862,
"aa_ref": "S",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5093,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265849.12",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2317_2319delAGTinsGGC",
"hgvs_p": "p.Ser773Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000535.7",
"protein_coding": true,
"protein_id": "ENSP00000265849.7",
"strand": false,
"transcript": "ENST00000265849.12",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 461,
"aa_ref": "S",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1386,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382321.5",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.1114_1116delAGTinsGGC",
"hgvs_p": "p.Ser372Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371758.4",
"strand": false,
"transcript": "ENST00000382321.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000406569.8",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "n.1679-2_1679delAGTinsGGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514464.1",
"strand": false,
"transcript": "ENST00000406569.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 924,
"aa_ref": "S",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2503,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406866.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2503_2505delAGTinsGGC",
"hgvs_p": "p.Ser835Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393795.1",
"strand": false,
"transcript": "NM_001406866.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 924,
"aa_ref": "S",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2570,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2503,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699839.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2503_2505delAGTinsGGC",
"hgvs_p": "p.Ser835Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514637.1",
"strand": false,
"transcript": "ENST00000699839.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5126,
"cdna_start": 2382,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2350,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322014.2",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2350_2352delAGTinsGGC",
"hgvs_p": "p.Ser784Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308943.1",
"strand": false,
"transcript": "NM_001322014.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5167,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2350,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699766.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2350_2352delAGTinsGGC",
"hgvs_p": "p.Ser784Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514574.1",
"strand": false,
"transcript": "ENST00000699766.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5117,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2341,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406868.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2341_2343delAGTinsGGC",
"hgvs_p": "p.Ser781Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393797.1",
"strand": false,
"transcript": "NM_001406868.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 861,
"aa_ref": "S",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 2384,
"cds_end": null,
"cds_length": 2586,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699840.2",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2314_2316delAGTinsGGC",
"hgvs_p": "p.Ser772Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514638.2",
"strand": false,
"transcript": "ENST00000699840.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 826,
"aa_ref": "S",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 2241,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406869.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2209_2211delAGTinsGGC",
"hgvs_p": "p.Ser737Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393798.1",
"strand": false,
"transcript": "NM_001406869.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 826,
"aa_ref": "S",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5035,
"cdna_start": 2291,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699930.2",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2209_2211delAGTinsGGC",
"hgvs_p": "p.Ser737Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514695.2",
"strand": false,
"transcript": "ENST00000699930.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 821,
"aa_ref": "S",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4970,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2194,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406870.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2194_2196delAGTinsGGC",
"hgvs_p": "p.Ser732Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393799.1",
"strand": false,
"transcript": "NM_001406870.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 821,
"aa_ref": "S",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2194,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933314.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2194_2196delAGTinsGGC",
"hgvs_p": "p.Ser732Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603373.1",
"strand": false,
"transcript": "ENST00000933314.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 810,
"aa_ref": "S",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4937,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001322006.2",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2161_2163delAGTinsGGC",
"hgvs_p": "p.Ser721Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308935.1",
"strand": false,
"transcript": "NM_001322006.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 810,
"aa_ref": "S",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4907,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2161,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699752.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2161_2163delAGTinsGGC",
"hgvs_p": "p.Ser721Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514561.1",
"strand": false,
"transcript": "ENST00000699752.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4925,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2149,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406872.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2149_2151delAGTinsGGC",
"hgvs_p": "p.Ser717Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393801.1",
"strand": false,
"transcript": "NM_001406872.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4925,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2149,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406874.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2149_2151delAGTinsGGC",
"hgvs_p": "p.Ser717Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393803.1",
"strand": false,
"transcript": "NM_001406874.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2149,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699827.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2149_2151delAGTinsGGC",
"hgvs_p": "p.Ser717Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514628.1",
"strand": false,
"transcript": "ENST00000699827.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 796,
"aa_ref": "S",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4895,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 2391,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001406873.1",
"gene_hgnc_id": 9122,
"gene_symbol": "PMS2",
"hgvs_c": "c.2119_2121delAGTinsGGC",
"hgvs_p": "p.Ser707Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393802.1",
"strand": false,
"transcript": "NM_001406873.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 796,
"aa_ref": "S",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4880,
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