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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: 8-104392804-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=104392804&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 104392804,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001385.3",
"consequences": [
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "NM_001385.3",
"protein_id": "NP_001376.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351513.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385.3"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000351513.7",
"protein_id": "ENSP00000276651.2",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351513.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "n.327C>T",
"hgvs_p": null,
"transcript": "ENST00000520483.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000520483.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1531C>T",
"hgvs_p": "p.Arg511*",
"transcript": "ENST00000908793.1",
"protein_id": "ENSP00000578852.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 555,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908793.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1531C>T",
"hgvs_p": "p.Arg511*",
"transcript": "ENST00000908797.1",
"protein_id": "ENSP00000578856.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 555,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908797.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1531C>T",
"hgvs_p": "p.Arg511*",
"transcript": "ENST00000908801.1",
"protein_id": "ENSP00000578860.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 555,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908801.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1531C>T",
"hgvs_p": "p.Arg511*",
"transcript": "ENST00000908803.1",
"protein_id": "ENSP00000578862.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 555,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908803.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908814.1",
"protein_id": "ENSP00000578873.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 544,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908814.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1480C>T",
"hgvs_p": "p.Arg494*",
"transcript": "ENST00000908815.1",
"protein_id": "ENSP00000578874.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 538,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908815.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908791.1",
"protein_id": "ENSP00000578850.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908791.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908792.1",
"protein_id": "ENSP00000578851.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908792.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908794.1",
"protein_id": "ENSP00000578853.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908794.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908795.1",
"protein_id": "ENSP00000578854.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908795.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908796.1",
"protein_id": "ENSP00000578855.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908796.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908798.1",
"protein_id": "ENSP00000578857.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908798.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908800.1",
"protein_id": "ENSP00000578859.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908800.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000908816.1",
"protein_id": "ENSP00000578875.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 519,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908816.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Arg474*",
"transcript": "ENST00000908805.1",
"protein_id": "ENSP00000578864.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 518,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908805.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1414C>T",
"hgvs_p": "p.Arg472*",
"transcript": "ENST00000908804.1",
"protein_id": "ENSP00000578863.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 516,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908804.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465*",
"transcript": "ENST00000908810.1",
"protein_id": "ENSP00000578869.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 509,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908810.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1375C>T",
"hgvs_p": "p.Arg459*",
"transcript": "ENST00000908807.1",
"protein_id": "ENSP00000578866.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 503,
"cds_start": 1375,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908807.1"
},
{
"aa_ref": "R",
"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": "DPYS",
"gene_hgnc_id": 3013,
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458*",
"transcript": "ENST00000908802.1",
"protein_id": "ENSP00000578861.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 502,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908802.1"
},
{
"aa_ref": "R",
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"phenotype_combined": "not provided|Dihydropyrimidinase deficiency",
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}
],
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}