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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: 17-35103501-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35103501&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35103501,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001142571.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.620C>G",
"hgvs_p": "p.Ser207Trp",
"transcript": "NM_002878.4",
"protein_id": "NP_002869.3",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 328,
"cds_start": 620,
"cds_end": null,
"cds_length": 987,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": "ENST00000345365.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002878.4"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.620C>G",
"hgvs_p": "p.Ser207Trp",
"transcript": "ENST00000345365.11",
"protein_id": "ENSP00000338790.6",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 328,
"cds_start": 620,
"cds_end": null,
"cds_length": 987,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": "NM_002878.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345365.11"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.485C>G",
"hgvs_p": "p.Ser162Trp",
"transcript": "ENST00000586186.3",
"protein_id": "ENSP00000468273.3",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 283,
"cds_start": 485,
"cds_end": null,
"cds_length": 852,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586186.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Ser48Trp",
"transcript": "ENST00000593039.5",
"protein_id": "ENSP00000466834.1",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 272,
"cds_start": 143,
"cds_end": null,
"cds_length": 819,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593039.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.284C>G",
"hgvs_p": "p.Ser95Trp",
"transcript": "ENST00000335858.11",
"protein_id": "ENSP00000338408.6",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 216,
"cds_start": 284,
"cds_end": null,
"cds_length": 651,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335858.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*351C>G",
"hgvs_p": null,
"transcript": "ENST00000586044.5",
"protein_id": "ENSP00000465584.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586044.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*214C>G",
"hgvs_p": null,
"transcript": "ENST00000586210.5",
"protein_id": "ENSP00000465612.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586210.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*351C>G",
"hgvs_p": null,
"transcript": "ENST00000586044.5",
"protein_id": "ENSP00000465584.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586044.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*214C>G",
"hgvs_p": null,
"transcript": "ENST00000586210.5",
"protein_id": "ENSP00000465612.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586210.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Ser227Trp",
"transcript": "NM_001142571.2",
"protein_id": "NP_001136043.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 348,
"cds_start": 680,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 9924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142571.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Ser227Trp",
"transcript": "ENST00000590016.6",
"protein_id": "ENSP00000466399.1",
"transcript_support_level": 2,
"aa_start": 227,
"aa_end": null,
"aa_length": 348,
"cds_start": 680,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 10026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590016.6"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Ser227Trp",
"transcript": "ENST00000928069.1",
"protein_id": "ENSP00000598128.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 348,
"cds_start": 680,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928069.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.620C>G",
"hgvs_p": "p.Ser207Trp",
"transcript": "ENST00000394589.8",
"protein_id": "ENSP00000378090.4",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 328,
"cds_start": 620,
"cds_end": null,
"cds_length": 987,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394589.8"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.620C>G",
"hgvs_p": "p.Ser207Trp",
"transcript": "ENST00000960682.1",
"protein_id": "ENSP00000630741.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 328,
"cds_start": 620,
"cds_end": null,
"cds_length": 987,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960682.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.620C>G",
"hgvs_p": "p.Ser207Trp",
"transcript": "ENST00000928071.1",
"protein_id": "ENSP00000598130.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 327,
"cds_start": 620,
"cds_end": null,
"cds_length": 984,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928071.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.284C>G",
"hgvs_p": "p.Ser95Trp",
"transcript": "NM_133629.3",
"protein_id": "NP_598332.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 216,
"cds_start": 284,
"cds_end": null,
"cds_length": 651,
"cdna_start": 429,
"cdna_end": null,
"cdna_length": 9528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133629.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.263C>G",
"hgvs_p": "p.Ser88Trp",
"transcript": "ENST00000587405.6",
"protein_id": "ENSP00000466478.2",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 209,
"cds_start": 263,
"cds_end": null,
"cds_length": 630,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587405.6"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.263C>G",
"hgvs_p": "p.Ser88Trp",
"transcript": "ENST00000592577.6",
"protein_id": "ENSP00000466839.2",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 209,
"cds_start": 263,
"cds_end": null,
"cds_length": 630,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592577.6"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.263C>G",
"hgvs_p": "p.Ser88Trp",
"transcript": "ENST00000592181.1",
"protein_id": "ENSP00000464799.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 203,
"cds_start": 263,
"cds_end": null,
"cds_length": 612,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592181.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.188C>G",
"hgvs_p": "p.Ser63Trp",
"transcript": "ENST00000851373.1",
"protein_id": "ENSP00000521432.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 184,
"cds_start": 188,
"cds_end": null,
"cds_length": 555,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851373.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.89C>G",
"hgvs_p": "p.Ser30Trp",
"transcript": "ENST00000460118.6",
"protein_id": "ENSP00000464356.2",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 151,
"cds_start": 89,
"cds_end": null,
"cds_length": 456,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460118.6"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.89C>G",
"hgvs_p": "p.Ser30Trp",
"transcript": "ENST00000591723.5",
"protein_id": "ENSP00000467986.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 127,
"cds_start": 89,
"cds_end": null,
"cds_length": 384,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
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{
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{
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],
"clinvar_disease": " 4, familial, susceptibility to,Breast-ovarian cancer,Hereditary cancer-predisposing syndrome,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:3",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 4|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}