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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: 5-75599649-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75599649&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75599649,
"ref": "G",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000241436.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.*2863G>C",
"hgvs_p": null,
"transcript": "ENST00000514141.5",
"protein_id": "ENSP00000423526.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
"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": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.*2863G>C",
"hgvs_p": null,
"transcript": "ENST00000514141.5",
"protein_id": "ENSP00000423526.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.4109G>C",
"hgvs_p": null,
"transcript": "NR_144315.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.4098G>C",
"hgvs_p": null,
"transcript": "NR_170559.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "n.4330G>C",
"hgvs_p": null,
"transcript": "NR_170560.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
"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,
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"cds_length": 2613,
"cdna_start": null,
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"cdna_length": 14760,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
"hgvs_p": null,
"transcript": "NM_016218.6",
"protein_id": "NP_057302.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
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"transcript": "NM_001387110.3",
"protein_id": "NP_001374039.1",
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"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
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"transcript": "NM_001395899.1",
"protein_id": "NP_001382828.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "POLK",
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"hgvs_c": "c.*1631G>C",
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"transcript": "NM_001345921.3",
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},
{
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],
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"gene_symbol": "POLK",
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},
{
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"strand": true,
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],
"exon_rank": 14,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "POLK",
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"hgvs_c": "c.*1631G>C",
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},
{
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],
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"gene_symbol": "POLK",
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"hgvs_c": "c.*1631G>C",
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"transcript": "NM_001345922.3",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 17,
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"intron_rank": null,
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"gene_symbol": "POLK",
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"hgvs_c": "c.*1631G>C",
"hgvs_p": null,
"transcript": "NM_001395893.1",
"protein_id": "NP_001382822.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
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"transcript": "NM_001395902.1",
"protein_id": "NP_001382831.1",
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},
{
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],
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"intron_rank": null,
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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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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "POLK",
"gene_hgnc_id": 9183,
"hgvs_c": "c.*1631G>C",
"hgvs_p": null,
"transcript": "XM_054328412.1",
"protein_id": "XP_054184387.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLK",
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"hgvs_c": "c.*1631G>C",
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"transcript": "XM_054328413.1",
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}
],
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}