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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: 19-6753539-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6753539&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6753539,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001439225.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Pro",
"transcript": "NM_005490.3",
"protein_id": "NP_005481.2",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 576,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245908.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005490.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Pro",
"transcript": "ENST00000245908.11",
"protein_id": "ENSP00000245908.5",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 576,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005490.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245908.11"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1574G>C",
"hgvs_p": "p.Arg525Pro",
"transcript": "NM_001439225.1",
"protein_id": "NP_001426154.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 605,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439225.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1574G>C",
"hgvs_p": "p.Arg525Pro",
"transcript": "ENST00000892014.1",
"protein_id": "ENSP00000562073.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 605,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892014.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1571G>C",
"hgvs_p": "p.Arg524Pro",
"transcript": "ENST00000892016.1",
"protein_id": "ENSP00000562075.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 604,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892016.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1571G>C",
"hgvs_p": "p.Arg524Pro",
"transcript": "ENST00000892018.1",
"protein_id": "ENSP00000562077.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 604,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892018.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Pro",
"transcript": "ENST00000892017.1",
"protein_id": "ENSP00000562076.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 592,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892017.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Pro",
"transcript": "ENST00000917564.1",
"protein_id": "ENSP00000587623.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 583,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917564.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Pro",
"transcript": "ENST00000892013.1",
"protein_id": "ENSP00000562072.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 576,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892013.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1484G>C",
"hgvs_p": "p.Arg495Pro",
"transcript": "NM_001386585.1",
"protein_id": "NP_001373514.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 575,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386585.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1484G>C",
"hgvs_p": "p.Arg495Pro",
"transcript": "ENST00000892015.1",
"protein_id": "ENSP00000562074.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 575,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892015.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1484G>C",
"hgvs_p": "p.Arg495Pro",
"transcript": "ENST00000917566.1",
"protein_id": "ENSP00000587625.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 575,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917566.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1469G>C",
"hgvs_p": "p.Arg490Pro",
"transcript": "ENST00000917563.1",
"protein_id": "ENSP00000587622.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 570,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917563.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1484G>C",
"hgvs_p": "p.Arg495Pro",
"transcript": "NM_001386584.1",
"protein_id": "NP_001373513.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 551,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386584.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1289G>C",
"hgvs_p": "p.Arg430Pro",
"transcript": "NM_001439226.1",
"protein_id": "NP_001426155.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 510,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439226.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1214G>C",
"hgvs_p": "p.Arg405Pro",
"transcript": "NM_001439227.1",
"protein_id": "NP_001426156.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 485,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439227.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1208G>C",
"hgvs_p": "p.Arg403Pro",
"transcript": "NM_001439228.1",
"protein_id": "NP_001426157.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 483,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439228.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1208G>C",
"hgvs_p": "p.Arg403Pro",
"transcript": "ENST00000437152.7",
"protein_id": "ENSP00000393303.2",
"transcript_support_level": 2,
"aa_start": 403,
"aa_end": null,
"aa_length": 483,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437152.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1202G>C",
"hgvs_p": "p.Arg401Pro",
"transcript": "NM_001439229.1",
"protein_id": "NP_001426158.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 481,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439229.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Arg387Pro",
"transcript": "ENST00000948758.1",
"protein_id": "ENSP00000618817.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 467,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948758.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1127G>C",
"hgvs_p": "p.Arg376Pro",
"transcript": "NM_001386586.1",
"protein_id": "NP_001373515.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 463,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386586.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1127G>C",
"hgvs_p": "p.Arg376Pro",
"transcript": "NM_001386587.1",
"protein_id": "NP_001373516.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 456,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}