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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: 6-45372114-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=45372114&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 45372114,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000371459.6",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.58+43330T>C",
"hgvs_p": null,
"transcript": "NM_001024630.4",
"protein_id": "NP_001019801.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": "ENST00000647337.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.58+43330T>C",
"hgvs_p": null,
"transcript": "ENST00000647337.2",
"protein_id": "ENSP00000495497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5540,
"mane_select": "NM_001024630.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-1+5654A>G",
"hgvs_p": null,
"transcript": "NM_003599.4",
"protein_id": "NP_003590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": "ENST00000371459.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-1+5654A>G",
"hgvs_p": null,
"transcript": "ENST00000371459.6",
"protein_id": "ENSP00000360514.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": "NM_003599.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-153+5654A>G",
"hgvs_p": null,
"transcript": "ENST00000371460.5",
"protein_id": "ENSP00000360515.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-5099A>G",
"hgvs_p": null,
"transcript": "XM_011514952.3",
"protein_id": "XP_011513254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
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"cdna_length": 14402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-3799A>G",
"hgvs_p": null,
"transcript": "XM_017011371.2",
"protein_id": "XP_016866860.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 317,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 13030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT3H",
"gene_hgnc_id": 11466,
"hgvs_c": "c.-5099A>G",
"hgvs_p": null,
"transcript": "XM_047419416.1",
"protein_id": "XP_047275372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14330,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RUNX2",
"gene_hgnc_id": 10472,
"hgvs_c": "c.58+43330T>C",
"hgvs_p": null,
"transcript": "ENST00000576263.5",
"protein_id": "ENSP00000458178.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
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"cds_length": 1629,
"cdna_start": null,
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"cdna_length": 2256,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "RUNX2",
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"hgvs_c": "c.58+43330T>C",
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"transcript": "ENST00000371438.5",
"protein_id": "ENSP00000360493.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "RUNX2",
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"hgvs_c": "c.58+43330T>C",
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"transcript": "NM_001015051.4",
"protein_id": "NP_001015051.3",
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},
{
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],
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},
{
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],
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},
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],
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"gene_symbol": "SUPT3H",
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},
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],
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},
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],
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},
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],
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],
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"gene_symbol": "SUPT3H",
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"transcript": "ENST00000475057.5",
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},
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "RUNX2",
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"hgvs_c": "n.58+43330T>C",
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