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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: 1-226370490-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=226370490&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 226370490,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001618.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Lys700Glu",
"transcript": "NM_001618.4",
"protein_id": "NP_001609.2",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2098,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": "ENST00000366794.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001618.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Lys700Glu",
"transcript": "ENST00000366794.10",
"protein_id": "ENSP00000355759.5",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2098,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": "NM_001618.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366794.10"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2092A>G",
"hgvs_p": "p.Lys698Glu",
"transcript": "ENST00000922077.1",
"protein_id": "ENSP00000592136.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2092,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922077.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2092A>G",
"hgvs_p": "p.Lys698Glu",
"transcript": "ENST00000922078.1",
"protein_id": "ENSP00000592137.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2092,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922078.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2092A>G",
"hgvs_p": "p.Lys698Glu",
"transcript": "ENST00000963780.1",
"protein_id": "ENSP00000633839.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2092,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963780.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Lys700Glu",
"transcript": "ENST00000922079.1",
"protein_id": "ENSP00000592138.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2098,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922079.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Lys700Glu",
"transcript": "ENST00000963781.1",
"protein_id": "ENSP00000633840.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2098,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963781.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2086A>G",
"hgvs_p": "p.Lys696Glu",
"transcript": "ENST00000922080.1",
"protein_id": "ENSP00000592139.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2086,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922080.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Lys700Glu",
"transcript": "ENST00000874609.1",
"protein_id": "ENSP00000544668.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2098,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874609.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Lys700Glu",
"transcript": "ENST00000874606.1",
"protein_id": "ENSP00000544665.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 981,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874606.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.1969A>G",
"hgvs_p": "p.Lys657Glu",
"transcript": "ENST00000677203.1",
"protein_id": "ENSP00000503396.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 971,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677203.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.2098A>G",
"hgvs_p": "p.Lys700Glu",
"transcript": "ENST00000874608.1",
"protein_id": "ENSP00000544667.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 963,
"cds_start": 2098,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874608.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.1411A>G",
"hgvs_p": "p.Lys471Glu",
"transcript": "ENST00000922081.1",
"protein_id": "ENSP00000592140.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 785,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922081.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Lys50Glu",
"transcript": "ENST00000874607.1",
"protein_id": "ENSP00000544666.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 364,
"cds_start": 148,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874607.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "n.626A>G",
"hgvs_p": null,
"transcript": "ENST00000490921.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490921.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "n.2257A>G",
"hgvs_p": null,
"transcript": "ENST00000498787.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498787.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "n.1870A>G",
"hgvs_p": null,
"transcript": "ENST00000676565.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "n.2323A>G",
"hgvs_p": null,
"transcript": "ENST00000676685.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676685.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "n.2323A>G",
"hgvs_p": null,
"transcript": "ENST00000676709.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "n.*780A>G",
"hgvs_p": null,
"transcript": "ENST00000677091.1",
"protein_id": "ENSP00000504745.1",
"transcript_support_level": null,
"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": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000677091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "n.151A>G",
"hgvs_p": null,
"transcript": "ENST00000677189.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000677189.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP1",
"gene_hgnc_id": 270,
"hgvs_c": "n.3284A>G",
"hgvs_p": null,
"transcript": "ENST00000677374.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677374.1"
},
{
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}
],
"message": null
}