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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: 17-58734146-CTTCTGCATGT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58734146&ref=CTTCTGCATGT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58734146,
"ref": "CTTCTGCATGT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000337432.9",
"consequences": [
{
"aa_ref": "SACS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.1057_1066delTCTGCATGTT",
"hgvs_p": "p.Ser353fs",
"transcript": "NM_058216.3",
"protein_id": "NP_478123.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 376,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": "ENST00000337432.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SACS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.1057_1066delTCTGCATGTT",
"hgvs_p": "p.Ser353fs",
"transcript": "ENST00000337432.9",
"protein_id": "ENSP00000336701.4",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 376,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": "NM_058216.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*485_*494delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000482007.5",
"protein_id": "ENSP00000433332.1",
"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": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*485_*494delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000482007.5",
"protein_id": "ENSP00000433332.1",
"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": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLHV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.828_837delTCTGCATGTT",
"hgvs_p": "p.Leu277fs",
"transcript": "ENST00000697686.1",
"protein_id": "ENSP00000513397.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 286,
"cds_start": 828,
"cds_end": null,
"cds_length": 861,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SACS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.706_715delTCTGCATGTT",
"hgvs_p": "p.Ser236fs",
"transcript": "ENST00000697694.1",
"protein_id": "ENSP00000513402.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 259,
"cds_start": 706,
"cds_end": null,
"cds_length": 780,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SACS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.697_706delTCTGCATGTT",
"hgvs_p": "p.Ser233fs",
"transcript": "ENST00000413590.5",
"protein_id": "ENSP00000401741.1",
"transcript_support_level": 2,
"aa_start": 233,
"aa_end": null,
"aa_length": 256,
"cds_start": 697,
"cds_end": null,
"cds_length": 771,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLHV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.291_300delTCTGCATGTT",
"hgvs_p": "p.Leu98fs",
"transcript": "ENST00000584804.1",
"protein_id": "ENSP00000463658.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 107,
"cds_start": 291,
"cds_end": null,
"cds_length": 324,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SACS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.1060_1069delTCTGCATGTT",
"hgvs_p": "p.Ser354fs",
"transcript": "XM_006722001.5",
"protein_id": "XP_006722064.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 377,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LLHV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.996_1005delTCTGCATGTT",
"hgvs_p": "p.Leu333fs",
"transcript": "XM_006722002.5",
"protein_id": "XP_006722065.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 342,
"cds_start": 996,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SACS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.709_718delTCTGCATGTT",
"hgvs_p": "p.Ser237fs",
"transcript": "XM_006722004.4",
"protein_id": "XP_006722067.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 260,
"cds_start": 709,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SACS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.709_718delTCTGCATGTT",
"hgvs_p": "p.Ser237fs",
"transcript": "XM_011525094.3",
"protein_id": "XP_011523396.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 260,
"cds_start": 709,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.244_253delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000461706.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*1693_*1702delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000475762.5",
"protein_id": "ENSP00000432421.1",
"transcript_support_level": 2,
"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": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*633_*642delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000487525.5",
"protein_id": "ENSP00000431637.1",
"transcript_support_level": 5,
"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": 1253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.270_279delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000578151.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.572_581delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000581221.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*2021_*2030delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000697680.1",
"protein_id": "ENSP00000513392.1",
"transcript_support_level": null,
"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": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*2218_*2227delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000697681.1",
"protein_id": "ENSP00000513393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*1993_*2002delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000697683.1",
"protein_id": "ENSP00000513395.1",
"transcript_support_level": null,
"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": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*1754_*1763delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000697685.1",
"protein_id": "ENSP00000513396.1",
"transcript_support_level": null,
"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": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*1471_*1480delTCTGCATGTT",
"hgvs_p": null,
"transcript": "ENST00000697689.1",
"protein_id": "ENSP00000513398.1",
"transcript_support_level": null,
"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": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
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{
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"verdict": "Uncertain_significance",
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}
],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "Fanconi anemia complementation group O|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}