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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: 7-5973519-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5973519&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5973519,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000265849.12",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2469C>T",
"hgvs_p": "p.Asn823Asn",
"transcript": "NM_000535.7",
"protein_id": "NP_000526.2",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 862,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "ENST00000265849.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2469C>T",
"hgvs_p": "p.Asn823Asn",
"transcript": "ENST00000265849.12",
"protein_id": "ENSP00000265849.7",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 862,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "NM_000535.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Asn422Asn",
"transcript": "ENST00000382321.5",
"protein_id": "ENSP00000371758.4",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 461,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1266,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "n.*110C>T",
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "n.*110C>T",
"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": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2655C>T",
"hgvs_p": "p.Asn885Asn",
"transcript": "NM_001406866.1",
"protein_id": "NP_001393795.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 924,
"cds_start": 2655,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2685,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2655C>T",
"hgvs_p": "p.Asn885Asn",
"transcript": "ENST00000699839.1",
"protein_id": "ENSP00000514637.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 924,
"cds_start": 2655,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2720,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2502C>T",
"hgvs_p": "p.Asn834Asn",
"transcript": "NM_001322014.2",
"protein_id": "NP_001308943.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 873,
"cds_start": 2502,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2502C>T",
"hgvs_p": "p.Asn834Asn",
"transcript": "ENST00000699766.1",
"protein_id": "ENSP00000514574.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 873,
"cds_start": 2502,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2493C>T",
"hgvs_p": "p.Asn831Asn",
"transcript": "NM_001406868.1",
"protein_id": "NP_001393797.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 870,
"cds_start": 2493,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2466C>T",
"hgvs_p": "p.Asn822Asn",
"transcript": "ENST00000699840.2",
"protein_id": "ENSP00000514638.2",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 861,
"cds_start": 2466,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Asn787Asn",
"transcript": "NM_001406869.1",
"protein_id": "NP_001393798.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 826,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Asn787Asn",
"transcript": "ENST00000699930.2",
"protein_id": "ENSP00000514695.2",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 826,
"cds_start": 2361,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2346C>T",
"hgvs_p": "p.Asn782Asn",
"transcript": "NM_001406870.1",
"protein_id": "NP_001393799.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 821,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2376,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2325C>T",
"hgvs_p": "p.Asn775Asn",
"transcript": "NM_001406871.1",
"protein_id": "NP_001393800.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 814,
"cds_start": 2325,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 4949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2325C>T",
"hgvs_p": "p.Asn775Asn",
"transcript": "ENST00000699768.1",
"protein_id": "ENSP00000514576.1",
"transcript_support_level": null,
"aa_start": 775,
"aa_end": null,
"aa_length": 814,
"cds_start": 2325,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2313C>T",
"hgvs_p": "p.Asn771Asn",
"transcript": "NM_001322006.2",
"protein_id": "NP_001308935.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 810,
"cds_start": 2313,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2313C>T",
"hgvs_p": "p.Asn771Asn",
"transcript": "ENST00000699752.1",
"protein_id": "ENSP00000514561.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 810,
"cds_start": 2313,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2301C>T",
"hgvs_p": "p.Asn767Asn",
"transcript": "NM_001406872.1",
"protein_id": "NP_001393801.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 806,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2301C>T",
"hgvs_p": "p.Asn767Asn",
"transcript": "NM_001406874.1",
"protein_id": "NP_001393803.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 806,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2301C>T",
"hgvs_p": "p.Asn767Asn",
"transcript": "ENST00000699827.1",
"protein_id": "ENSP00000514628.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 806,
"cds_start": 2301,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "c.2271C>T",
"hgvs_p": "p.Asn757Asn",
"transcript": "NM_001406873.1",
"protein_id": "NP_001393802.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 796,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
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],
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"phylop100way_prediction": "Benign",
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{
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome|Lynch syndrome 4",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}