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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: 6-97082970-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=97082970&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 97082970,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000369261.9",
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.412-2156T>C",
"hgvs_p": null,
"transcript": "NM_052904.4",
"protein_id": "NP_443136.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": "ENST00000369261.9",
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.412-2156T>C",
"hgvs_p": null,
"transcript": "ENST00000369261.9",
"protein_id": "ENSP00000358265.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": "NM_052904.4",
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.-254-2156T>C",
"hgvs_p": null,
"transcript": "ENST00000620278.1",
"protein_id": "ENSP00000482012.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2642,
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.412-2156T>C",
"hgvs_p": null,
"transcript": "NM_001323252.2",
"protein_id": "NP_001310181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3745,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.304-2156T>C",
"hgvs_p": null,
"transcript": "NM_001286250.2",
"protein_id": "NP_001273179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3590,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.304-2156T>C",
"hgvs_p": null,
"transcript": "ENST00000536676.5",
"protein_id": "ENSP00000440382.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3699,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.220-2156T>C",
"hgvs_p": null,
"transcript": "NM_001323263.2",
"protein_id": "NP_001310192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
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"cds_length": 1671,
"cdna_start": null,
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"cdna_length": 3196,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.205-2156T>C",
"hgvs_p": null,
"transcript": "NM_001286251.2",
"protein_id": "NP_001273180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3491,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.205-2156T>C",
"hgvs_p": null,
"transcript": "ENST00000539200.5",
"protein_id": "ENSP00000441527.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": -4,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
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"cdna_length": 3600,
"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,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.411+18244T>C",
"hgvs_p": null,
"transcript": "NM_001323257.2",
"protein_id": "NP_001310186.1",
"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": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.412-2156T>C",
"hgvs_p": null,
"transcript": "NM_001323253.2",
"protein_id": "NP_001310182.1",
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},
{
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],
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"exon_count": 8,
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"gene_symbol": "KLHL32",
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},
{
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],
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"gene_symbol": "KLHL32",
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"hgvs_c": "c.412-2156T>C",
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"transcript": "NM_001286252.2",
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},
{
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],
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"gene_symbol": "KLHL32",
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"hgvs_c": "c.411+18244T>C",
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},
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],
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},
{
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],
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"gene_symbol": "KLHL32",
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},
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"gene_symbol": "KLHL32",
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},
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],
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"gene_symbol": "KLHL32",
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"hgvs_c": "c.-254-2156T>C",
"hgvs_p": null,
"transcript": "NM_001323262.2",
"protein_id": "NP_001310191.1",
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],
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"gene_symbol": "KLHL32",
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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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"intron_rank": 1,
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"gene_symbol": "KLHL32",
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"hgvs_c": "c.100-2156T>C",
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"transcript": "ENST00000447886.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.22+18244T>C",
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"transcript": "ENST00000544166.5",
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},
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}