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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: 5-75512592-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75512592&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75512592,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000241436.9",
"consequences": [
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-14+678G>A",
"hgvs_p": null,
"transcript": "ENST00000241436.9",
"protein_id": "ENSP00000241436.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": -4,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-505G>A",
"hgvs_p": null,
"transcript": "ENST00000514296.5",
"protein_id": "ENSP00000425208.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-14+678G>A",
"hgvs_p": null,
"transcript": "NM_001387111.3",
"protein_id": "NP_001374040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": -4,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-151+678G>A",
"hgvs_p": null,
"transcript": "NM_001395894.1",
"protein_id": "NP_001382823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": -4,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-151+678G>A",
"hgvs_p": null,
"transcript": "NM_001395897.1",
"protein_id": "NP_001382826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": -4,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-151+678G>A",
"hgvs_p": null,
"transcript": "NM_001387113.3",
"protein_id": "NP_001374042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": -4,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-14+678G>A",
"hgvs_p": null,
"transcript": "NM_016218.6",
"protein_id": "NP_057302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": -4,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
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"cdna_length": 14623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-14+678G>A",
"hgvs_p": null,
"transcript": "NM_001387110.3",
"protein_id": "NP_001374039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-14+678G>A",
"hgvs_p": null,
"transcript": "NM_001395899.1",
"protein_id": "NP_001382828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 819,
"cds_start": -4,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
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"cdna_length": 14470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-64+678G>A",
"hgvs_p": null,
"transcript": "NM_001345921.3",
"protein_id": "NP_001332850.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-201+678G>A",
"hgvs_p": null,
"transcript": "NM_001395900.1",
"protein_id": "NP_001382829.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "POLK",
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},
{
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],
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"gene_symbol": "POLK",
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"transcript": "NM_001345922.3",
"protein_id": "NP_001332851.1",
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],
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "POLK",
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"hgvs_c": "n.-64+678G>A",
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"transcript": "ENST00000503479.6",
"protein_id": "ENSP00000421997.2",
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],
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},
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],
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"intron_rank": 1,
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"hgvs_c": "n.24+678G>A",
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"transcript": "ENST00000506928.5",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "POLK",
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"hgvs_c": "n.-250+678G>A",
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"transcript": "ENST00000510815.6",
"protein_id": "ENSP00000422094.2",
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],
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},
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],
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.-14+375G>A",
"hgvs_p": null,
"transcript": "XM_054328410.1",
"protein_id": "XP_054184385.1",
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},
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"consequences": [
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],
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}
],
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}