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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: 8-133048214-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133048214&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 133048214,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000220616.9",
"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": 48,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7239+18191T>C",
"hgvs_p": null,
"transcript": "NM_003235.5",
"protein_id": "NP_003226.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2768,
"cds_start": -4,
"cds_end": null,
"cds_length": 8307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8455,
"mane_select": "ENST00000220616.9",
"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": 48,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7239+18191T>C",
"hgvs_p": null,
"transcript": "ENST00000220616.9",
"protein_id": "ENSP00000220616.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2768,
"cds_start": -4,
"cds_end": null,
"cds_length": 8307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8455,
"mane_select": "NM_003235.5",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.249-281A>G",
"hgvs_p": null,
"transcript": "NM_001045556.3",
"protein_id": "NP_001039021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": "ENST00000338087.10",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.249-281A>G",
"hgvs_p": null,
"transcript": "ENST00000338087.10",
"protein_id": "ENSP00000337548.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": "NM_001045556.3",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.369-281A>G",
"hgvs_p": null,
"transcript": "ENST00000427060.6",
"protein_id": "ENSP00000394049.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": -4,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.300-281A>G",
"hgvs_p": null,
"transcript": "ENST00000395352.7",
"protein_id": "ENSP00000378759.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "n.386-281A>G",
"hgvs_p": null,
"transcript": "ENST00000523224.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 35,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "n.*3452+18191T>C",
"hgvs_p": null,
"transcript": "ENST00000523756.5",
"protein_id": "ENSP00000428628.1",
"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": 5065,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLA",
"gene_hgnc_id": 10902,
"hgvs_c": "c.-253A>G",
"hgvs_p": null,
"transcript": "XM_047422109.1",
"protein_id": "XP_047278065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.2604+18191T>C",
"hgvs_p": null,
"transcript": "ENST00000519178.5",
"protein_id": "ENSP00000430523.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
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"cdna_length": 3706,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.1638+18191T>C",
"hgvs_p": null,
"transcript": "ENST00000519543.5",
"protein_id": "ENSP00000430430.1",
"transcript_support_level": 2,
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"cds_start": -4,
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 7,
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"gene_symbol": "SLA",
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"hgvs_c": "c.369-281A>G",
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"transcript": "NM_006748.4",
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},
{
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],
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"gene_symbol": "SLA",
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"hgvs_c": "c.300-281A>G",
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"transcript": "NM_001045557.3",
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},
{
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],
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"gene_symbol": "SLA",
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"hgvs_c": "c.300-281A>G",
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"transcript": "NM_001282964.2",
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},
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],
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"transcript": "ENST00000517648.5",
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},
{
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],
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"gene_symbol": "SLA",
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"transcript": "NM_001282965.2",
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},
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],
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"transcript": "ENST00000524345.5",
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},
{
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],
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"hgvs_c": "c.249-281A>G",
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"transcript": "ENST00000522119.5",
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},
{
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],
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "SLA",
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"hgvs_c": "c.249-281A>G",
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"transcript": "ENST00000519341.5",
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],
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},
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],
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"hgvs_c": "c.7176+18191T>C",
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 40,
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"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7173+18191T>C",
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"transcript": "XM_017013793.2",
"protein_id": "XP_016869282.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 47,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "TG",
"gene_hgnc_id": 11764,
"hgvs_c": "c.7239+18191T>C",
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"transcript": "XM_017013794.2",
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},
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}
],
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}