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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: 17-78390193-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78390193&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78390193,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_024419.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "NM_024419.5",
"protein_id": "NP_077733.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262764.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024419.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000262764.11",
"protein_id": "ENSP00000262764.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024419.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262764.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.138-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000592043.5",
"protein_id": "ENSP00000466219.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592043.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "n.144-6115C>A",
"hgvs_p": null,
"transcript": "ENST00000589425.5",
"protein_id": "ENSP00000465278.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000589425.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "n.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000589426.5",
"protein_id": "ENSP00000468431.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000589426.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000890419.1",
"protein_id": "ENSP00000560478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": null,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000890421.1",
"protein_id": "ENSP00000560480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": null,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000945009.1",
"protein_id": "ENSP00000615068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": null,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000589689.5",
"protein_id": "ENSP00000465908.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": null,
"cds_end": null,
"cds_length": 1153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589689.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000920347.1",
"protein_id": "ENSP00000590406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": null,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920347.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000920348.1",
"protein_id": "ENSP00000590407.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 382,
"cds_start": null,
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"cds_length": 1149,
"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920348.1"
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "PGS1",
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"hgvs_c": "c.144-2283C>A",
"hgvs_p": null,
"transcript": "ENST00000890420.1",
"protein_id": "ENSP00000560479.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890420.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "PGS1",
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"hgvs_c": "c.144-2283C>A",
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"transcript": "ENST00000890422.1",
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"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000890422.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "PGS1",
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"hgvs_c": "c.131-2321C>A",
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"transcript": "ENST00000587356.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.143+11385C>A",
"hgvs_p": null,
"transcript": "ENST00000890418.1",
"protein_id": "ENSP00000560477.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 112,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000890418.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "PGS1",
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"hgvs_c": "c.414-2283C>A",
"hgvs_p": null,
"transcript": "XM_011525487.3",
"protein_id": "XP_011523789.1",
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"feature": "XM_011525487.3"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.414-2283C>A",
"hgvs_p": null,
"transcript": "XM_017025357.2",
"protein_id": "XP_016880846.1",
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"biotype": "protein_coding",
"feature": "XM_017025357.2"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.414-2283C>A",
"hgvs_p": null,
"transcript": "XM_017025358.2",
"protein_id": "XP_016880847.1",
"transcript_support_level": null,
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.414-2283C>A",
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"transcript": "XM_047437101.1",
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},
{
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"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.414-2283C>A",
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"transcript": "XM_017025359.2",
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},
{
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "PGS1",
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"hgvs_c": "c.414-2283C>A",
"hgvs_p": null,
"transcript": "XM_011525488.3",
"protein_id": "XP_011523790.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011525488.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGS1",
"gene_hgnc_id": 30029,
"hgvs_c": "c.414-2283C>A",
"hgvs_p": null,
"transcript": "XM_017025360.2",
"protein_id": "XP_016880849.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 604,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025360.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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