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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: 17-35101279-CC-GG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35101279&ref=CC&alt=GG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RAD51D",
"hgnc_id": 9823,
"hgvs_c": "c.884_885delGGinsCC",
"hgvs_p": "p.Arg295Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001142571.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000267618",
"hgnc_id": null,
"hgvs_c": "c.347_348delGGinsCC",
"hgvs_p": "p.Arg116Pro",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000593039.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "RAD51L3-RFFL",
"hgnc_id": null,
"hgvs_c": "n.576_577delGGinsCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_037714.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "P",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9966,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 987,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002878.4",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.824_825delGGinsCC",
"hgvs_p": "p.Arg275Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345365.11",
"protein_coding": true,
"protein_id": "NP_002869.3",
"strand": false,
"transcript": "NM_002878.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9966,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 987,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000345365.11",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.824_825delGGinsCC",
"hgvs_p": "p.Arg275Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002878.4",
"protein_coding": true,
"protein_id": "ENSP00000338790.6",
"strand": false,
"transcript": "ENST00000345365.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 283,
"aa_ref": "R",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 818,
"cds_end": null,
"cds_length": 852,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586186.3",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.689_690delGGinsCC",
"hgvs_p": "p.Arg230Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468273.3",
"strand": false,
"transcript": "ENST00000586186.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 272,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 548,
"cds_end": null,
"cds_length": 819,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000593039.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267618",
"hgvs_c": "c.347_348delGGinsCC",
"hgvs_p": "p.Arg116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466834.1",
"strand": false,
"transcript": "ENST00000593039.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": 621,
"cds_end": null,
"cds_length": 651,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335858.11",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.488_489delGGinsCC",
"hgvs_p": "p.Arg163Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338408.6",
"strand": false,
"transcript": "ENST00000335858.11",
"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": 1571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000586044.5",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "n.*555_*556delGGinsCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465584.1",
"strand": false,
"transcript": "ENST00000586044.5",
"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": 1194,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000586210.5",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "n.*418_*419delGGinsCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465612.1",
"strand": false,
"transcript": "ENST00000586210.5",
"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": 1571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000586044.5",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "n.*555_*556delGGinsCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465584.1",
"strand": false,
"transcript": "ENST00000586044.5",
"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": 1194,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000586210.5",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "n.*418_*419delGGinsCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465612.1",
"strand": false,
"transcript": "ENST00000586210.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9924,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1047,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142571.2",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.884_885delGGinsCC",
"hgvs_p": "p.Arg295Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136043.1",
"strand": false,
"transcript": "NM_001142571.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10026,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1047,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000590016.6",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.884_885delGGinsCC",
"hgvs_p": "p.Arg295Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466399.1",
"strand": false,
"transcript": "ENST00000590016.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1047,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928069.1",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.884_885delGGinsCC",
"hgvs_p": "p.Arg295Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598128.1",
"strand": false,
"transcript": "ENST00000928069.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 964,
"cds_end": null,
"cds_length": 987,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394589.8",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.824_825delGGinsCC",
"hgvs_p": "p.Arg275Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378090.4",
"strand": false,
"transcript": "ENST00000394589.8",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 328,
"aa_ref": "R",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 938,
"cds_end": null,
"cds_length": 987,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960682.1",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.824_825delGGinsCC",
"hgvs_p": "p.Arg275Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630741.1",
"strand": false,
"transcript": "ENST00000960682.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 327,
"aa_ref": "R",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 960,
"cds_end": null,
"cds_length": 984,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928071.1",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.821_822delGGinsCC",
"hgvs_p": "p.Arg274Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598130.1",
"strand": false,
"transcript": "ENST00000928071.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 274,
"aa_ref": "R",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1555,
"cdna_start": 864,
"cds_end": null,
"cds_length": 825,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928070.1",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.662_663delGGinsCC",
"hgvs_p": "p.Arg221Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598129.1",
"strand": false,
"transcript": "ENST00000928070.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9528,
"cdna_start": 634,
"cds_end": null,
"cds_length": 651,
"cds_start": 488,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133629.3",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.488_489delGGinsCC",
"hgvs_p": "p.Arg163Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_598332.1",
"strand": false,
"transcript": "NM_133629.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 209,
"aa_ref": "R",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 753,
"cds_end": null,
"cds_length": 630,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000587405.6",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.467_468delGGinsCC",
"hgvs_p": "p.Arg156Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466478.2",
"strand": false,
"transcript": "ENST00000587405.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 209,
"aa_ref": "R",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 845,
"cds_end": null,
"cds_length": 630,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592577.6",
"gene_hgnc_id": 9823,
"gene_symbol": "RAD51D",
"hgvs_c": "c.467_468delGGinsCC",
"hgvs_p": "p.Arg156Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466839.2",
"strand": false,
"transcript": "ENST00000592577.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 203,
"aa_ref": "R",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": 643,
"cds_end": null,
"cds_length": 612,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000592181.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267618",
"hgvs_c": "c.467_468delGGinsCC",
"hgvs_p": "p.Arg156Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464799.1",
"strand": false,
"transcript": "ENST00000592181.1",
"transcript_support_level": 5
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