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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: 19-6754094-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6754094&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6754094,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001439225.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Gln448*",
"transcript": "NM_005490.3",
"protein_id": "NP_005481.2",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 576,
"cds_start": 1342,
"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": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Gln448*",
"transcript": "ENST00000245908.11",
"protein_id": "ENSP00000245908.5",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 576,
"cds_start": 1342,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Gln477*",
"transcript": "NM_001439225.1",
"protein_id": "NP_001426154.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 605,
"cds_start": 1429,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1429C>T",
"hgvs_p": "p.Gln477*",
"transcript": "ENST00000892014.1",
"protein_id": "ENSP00000562073.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 605,
"cds_start": 1429,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Gln476*",
"transcript": "ENST00000892016.1",
"protein_id": "ENSP00000562075.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 604,
"cds_start": 1426,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Gln476*",
"transcript": "ENST00000892018.1",
"protein_id": "ENSP00000562077.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 604,
"cds_start": 1426,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Gln448*",
"transcript": "ENST00000892017.1",
"protein_id": "ENSP00000562076.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 592,
"cds_start": 1342,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Gln448*",
"transcript": "ENST00000917564.1",
"protein_id": "ENSP00000587623.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 583,
"cds_start": 1342,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Gln448*",
"transcript": "ENST00000892013.1",
"protein_id": "ENSP00000562072.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 576,
"cds_start": 1342,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Gln447*",
"transcript": "NM_001386585.1",
"protein_id": "NP_001373514.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 575,
"cds_start": 1339,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Gln447*",
"transcript": "ENST00000892015.1",
"protein_id": "ENSP00000562074.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 575,
"cds_start": 1339,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Gln447*",
"transcript": "ENST00000917566.1",
"protein_id": "ENSP00000587625.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 575,
"cds_start": 1339,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Gln442*",
"transcript": "ENST00000917563.1",
"protein_id": "ENSP00000587622.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 570,
"cds_start": 1324,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1339C>T",
"hgvs_p": "p.Gln447*",
"transcript": "NM_001386584.1",
"protein_id": "NP_001373513.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 551,
"cds_start": 1339,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Gln382*",
"transcript": "NM_001439226.1",
"protein_id": "NP_001426155.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 510,
"cds_start": 1144,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Gln357*",
"transcript": "NM_001439227.1",
"protein_id": "NP_001426156.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 485,
"cds_start": 1069,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Gln355*",
"transcript": "NM_001439228.1",
"protein_id": "NP_001426157.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 483,
"cds_start": 1063,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Gln355*",
"transcript": "ENST00000437152.7",
"protein_id": "ENSP00000393303.2",
"transcript_support_level": 2,
"aa_start": 355,
"aa_end": null,
"aa_length": 483,
"cds_start": 1063,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Gln353*",
"transcript": "NM_001439229.1",
"protein_id": "NP_001426158.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 481,
"cds_start": 1057,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Gln339*",
"transcript": "ENST00000948758.1",
"protein_id": "ENSP00000618817.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 467,
"cds_start": 1015,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Gln328*",
"transcript": "NM_001386586.1",
"protein_id": "NP_001373515.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 463,
"cds_start": 982,
"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": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D3A",
"gene_hgnc_id": 16885,
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Gln328*",
"transcript": "NM_001386587.1",
"protein_id": "NP_001373516.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 456,
"cds_start": 982,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
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"custom_annotations": null
}
],
"message": null
}