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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: 18-745710-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=745710&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 745710,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005433.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "NM_005433.4",
"protein_id": "NP_005424.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": "ENST00000314574.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005433.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000314574.5",
"protein_id": "ENSP00000324740.4",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": "NM_005433.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314574.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000584307.5",
"protein_id": "ENSP00000462468.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584307.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.737C>G",
"hgvs_p": "p.Thr246Arg",
"transcript": "ENST00000577961.5",
"protein_id": "ENSP00000464380.1",
"transcript_support_level": 5,
"aa_start": 246,
"aa_end": null,
"aa_length": 548,
"cds_start": 737,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577961.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.734C>G",
"hgvs_p": "p.Thr245Arg",
"transcript": "ENST00000925075.1",
"protein_id": "ENSP00000595134.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 547,
"cds_start": 734,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 4537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925075.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000892684.1",
"protein_id": "ENSP00000562743.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892684.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000892685.1",
"protein_id": "ENSP00000562744.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892685.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000892687.1",
"protein_id": "ENSP00000562746.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892687.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000892688.1",
"protein_id": "ENSP00000562747.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892688.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000925078.1",
"protein_id": "ENSP00000595137.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 4575,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925078.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000925080.1",
"protein_id": "ENSP00000595139.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925080.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000945836.1",
"protein_id": "ENSP00000615895.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945836.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000945837.1",
"protein_id": "ENSP00000615896.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945837.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000945839.1",
"protein_id": "ENSP00000615898.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 543,
"cds_start": 722,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945839.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.668C>G",
"hgvs_p": "p.Thr223Arg",
"transcript": "ENST00000925076.1",
"protein_id": "ENSP00000595135.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 525,
"cds_start": 668,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 4429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925076.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000925074.1",
"protein_id": "ENSP00000595133.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 510,
"cds_start": 722,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925074.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.623C>G",
"hgvs_p": "p.Thr208Arg",
"transcript": "ENST00000925079.1",
"protein_id": "ENSP00000595138.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 510,
"cds_start": 623,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925079.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000892686.1",
"protein_id": "ENSP00000562745.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 499,
"cds_start": 722,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892686.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000892689.1",
"protein_id": "ENSP00000562748.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 499,
"cds_start": 722,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892689.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000925072.1",
"protein_id": "ENSP00000595131.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 499,
"cds_start": 722,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 4546,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925072.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YES1",
"gene_hgnc_id": 12841,
"hgvs_c": "c.722C>G",
"hgvs_p": "p.Thr241Arg",
"transcript": "ENST00000925073.1",
"protein_id": "ENSP00000595132.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 499,
"cds_start": 722,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925073.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}