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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: 7-5977755-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=5977755&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 5977755,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000265849.12",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2278C>T",
"hgvs_p": "p.Pro760Ser",
"transcript": "NM_000535.7",
"protein_id": "NP_000526.2",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 862,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "ENST00000265849.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2278C>T",
"hgvs_p": "p.Pro760Ser",
"transcript": "ENST00000265849.12",
"protein_id": "ENSP00000265849.7",
"transcript_support_level": 1,
"aa_start": 760,
"aa_end": null,
"aa_length": 862,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": "NM_000535.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.1075C>T",
"hgvs_p": "p.Pro359Ser",
"transcript": "ENST00000382321.5",
"protein_id": "ENSP00000371758.4",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 461,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1075,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PMS2",
"gene_hgnc_id": 9122,
"hgvs_c": "n.1679-41C>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": "P",
"aa_alt": "S",
"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.2311C>T",
"hgvs_p": "p.Pro771Ser",
"transcript": "NM_001322014.2",
"protein_id": "NP_001308943.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 873,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2341,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2311C>T",
"hgvs_p": "p.Pro771Ser",
"transcript": "ENST00000699766.1",
"protein_id": "ENSP00000514574.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 873,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2155C>T",
"hgvs_p": "p.Pro719Ser",
"transcript": "NM_001406870.1",
"protein_id": "NP_001393799.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 821,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.2002C>T",
"hgvs_p": "p.Pro668Ser",
"transcript": "NM_001406875.1",
"protein_id": "NP_001393804.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 770,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.1993C>T",
"hgvs_p": "p.Pro665Ser",
"transcript": "NM_001406876.1",
"protein_id": "NP_001393805.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 767,
"cds_start": 1993,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.1906C>T",
"hgvs_p": "p.Pro636Ser",
"transcript": "NM_001322009.2",
"protein_id": "NP_001308938.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 738,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2526,
"cdna_end": null,
"cdna_length": 5311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.1906C>T",
"hgvs_p": "p.Pro636Ser",
"transcript": "NM_001406887.1",
"protein_id": "NP_001393816.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 738,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.1906C>T",
"hgvs_p": "p.Pro636Ser",
"transcript": "NM_001406888.1",
"protein_id": "NP_001393817.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 738,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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.1906C>T",
"hgvs_p": "p.Pro636Ser",
"transcript": "ENST00000699821.1",
"protein_id": "ENSP00000514622.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 738,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2464C>T",
"hgvs_p": "p.Pro822Ser",
"transcript": "NM_001406866.1",
"protein_id": "NP_001393795.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 924,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2464C>T",
"hgvs_p": "p.Pro822Ser",
"transcript": "ENST00000699839.1",
"protein_id": "ENSP00000514637.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 924,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2302C>T",
"hgvs_p": "p.Pro768Ser",
"transcript": "NM_001406868.1",
"protein_id": "NP_001393797.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 870,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2275C>T",
"hgvs_p": "p.Pro759Ser",
"transcript": "ENST00000699840.2",
"protein_id": "ENSP00000514638.2",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 861,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2170C>T",
"hgvs_p": "p.Pro724Ser",
"transcript": "NM_001406869.1",
"protein_id": "NP_001393798.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 826,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2200,
"cdna_end": null,
"cdna_length": 4985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2170C>T",
"hgvs_p": "p.Pro724Ser",
"transcript": "ENST00000699930.2",
"protein_id": "ENSP00000514695.2",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 826,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 5035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2122C>T",
"hgvs_p": "p.Pro708Ser",
"transcript": "NM_001322006.2",
"protein_id": "NP_001308935.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 810,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2122C>T",
"hgvs_p": "p.Pro708Ser",
"transcript": "ENST00000699752.1",
"protein_id": "ENSP00000514561.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 810,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.2110C>T",
"hgvs_p": "p.Pro704Ser",
"transcript": "NM_001406872.1",
"protein_id": "NP_001393801.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 806,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
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{
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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
}