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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: 1-109279521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109279521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109279521,
"ref": "G",
"alt": "A",
"effect": "downstream_gene_variant",
"transcript": "NM_001363309.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "NM_001032291.3",
"protein_id": "NP_001027462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369909.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032291.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000369909.7",
"protein_id": "ENSP00000358925.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001032291.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369909.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000369907.7",
"protein_id": "ENSP00000358923.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369907.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*600C>T",
"hgvs_p": null,
"transcript": "ENST00000369904.7",
"protein_id": "ENSP00000358920.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369904.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "n.*46C>T",
"hgvs_p": null,
"transcript": "ENST00000492431.1",
"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": "ENST00000492431.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "NM_001363309.2",
"protein_id": "NP_001350238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363309.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "NM_001394005.1",
"protein_id": "NP_001380934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394005.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000409138.6",
"protein_id": "ENSP00000474667.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409138.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000902367.1",
"protein_id": "ENSP00000572426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000902371.1",
"protein_id": "ENSP00000572430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000902373.1",
"protein_id": "ENSP00000572432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902373.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000902374.1",
"protein_id": "ENSP00000572433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902374.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000916111.1",
"protein_id": "ENSP00000586170.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 363,
"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": "ENST00000916111.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "PSRC1",
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"hgvs_c": "c.*632C>T",
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"transcript": "ENST00000916119.1",
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000954359.1",
"protein_id": "ENSP00000624418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954359.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "NM_001394002.1",
"protein_id": "NP_001380931.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394002.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "NM_032636.8",
"protein_id": "NP_116025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032636.8"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000369903.6",
"protein_id": "ENSP00000358919.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369903.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000409267.5",
"protein_id": "ENSP00000386323.1",
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"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000409267.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000902365.1",
"protein_id": "ENSP00000572424.1",
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"aa_end": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000902365.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000902366.1",
"protein_id": "ENSP00000572425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSRC1",
"gene_hgnc_id": 24472,
"hgvs_c": "c.*632C>T",
"hgvs_p": null,
"transcript": "ENST00000902368.1",
"protein_id": "ENSP00000572427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
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}