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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: 7-5977644-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5977644&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5977644,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265849.12",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Met797Val",
"transcript": "NM_000535.7",
"protein_id": "NP_000526.2",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 862,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "ENST00000265849.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2389A>G",
"hgvs_p": "p.Met797Val",
"transcript": "ENST00000265849.12",
"protein_id": "ENSP00000265849.7",
"transcript_support_level": 1,
"aa_start": 797,
"aa_end": null,
"aa_length": 862,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "NM_000535.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Met396Val",
"transcript": "ENST00000382321.5",
"protein_id": "ENSP00000371758.4",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 461,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "n.*30A>G",
"hgvs_p": null,
"transcript": "ENST00000406569.8",
"protein_id": "ENSP00000514464.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "n.*30A>G",
"hgvs_p": null,
"transcript": "ENST00000406569.8",
"protein_id": "ENSP00000514464.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Met859Val",
"transcript": "NM_001406866.1",
"protein_id": "NP_001393795.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 924,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2575A>G",
"hgvs_p": "p.Met859Val",
"transcript": "ENST00000699839.1",
"protein_id": "ENSP00000514637.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 924,
"cds_start": 2575,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2422A>G",
"hgvs_p": "p.Met808Val",
"transcript": "NM_001322014.2",
"protein_id": "NP_001308943.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 873,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2422A>G",
"hgvs_p": "p.Met808Val",
"transcript": "ENST00000699766.1",
"protein_id": "ENSP00000514574.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 873,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2413A>G",
"hgvs_p": "p.Met805Val",
"transcript": "NM_001406868.1",
"protein_id": "NP_001393797.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 870,
"cds_start": 2413,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2443,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2386A>G",
"hgvs_p": "p.Met796Val",
"transcript": "ENST00000699840.2",
"protein_id": "ENSP00000514638.2",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 861,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2281A>G",
"hgvs_p": "p.Met761Val",
"transcript": "NM_001406869.1",
"protein_id": "NP_001393798.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 826,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2281A>G",
"hgvs_p": "p.Met761Val",
"transcript": "ENST00000699930.2",
"protein_id": "ENSP00000514695.2",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 826,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2266A>G",
"hgvs_p": "p.Met756Val",
"transcript": "NM_001406870.1",
"protein_id": "NP_001393799.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 821,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Met749Val",
"transcript": "NM_001406871.1",
"protein_id": "NP_001393800.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 814,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2245A>G",
"hgvs_p": "p.Met749Val",
"transcript": "ENST00000699768.1",
"protein_id": "ENSP00000514576.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 814,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2233A>G",
"hgvs_p": "p.Met745Val",
"transcript": "NM_001322006.2",
"protein_id": "NP_001308935.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 810,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2233A>G",
"hgvs_p": "p.Met745Val",
"transcript": "ENST00000699752.1",
"protein_id": "ENSP00000514561.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 810,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2221A>G",
"hgvs_p": "p.Met741Val",
"transcript": "NM_001406872.1",
"protein_id": "NP_001393801.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 806,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2251,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2221A>G",
"hgvs_p": "p.Met741Val",
"transcript": "NM_001406874.1",
"protein_id": "NP_001393803.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 806,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2251,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2221A>G",
"hgvs_p": "p.Met741Val",
"transcript": "ENST00000699827.1",
"protein_id": "ENSP00000514628.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 806,
"cds_start": 2221,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2191A>G",
"hgvs_p": "p.Met731Val",
"transcript": "NM_001406873.1",
"protein_id": "NP_001393802.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 796,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}