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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: 7-92225840-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92225840&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92225840,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000394505.7",
"consequences": [
{
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "NM_194454.3",
"protein_id": "NP_919436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "ENST00000394505.7",
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "ENST00000394505.7",
"protein_id": "ENSP00000378013.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": "NM_194454.3",
"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": 26,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289027",
"gene_hgnc_id": null,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "ENST00000692281.1",
"protein_id": "ENSP00000510568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1120,
"cds_start": -4,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"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": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "ENST00000458493.6",
"protein_id": "ENSP00000396352.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3148,
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "ENST00000340022.6",
"protein_id": "ENSP00000344668.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4553,
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "ENST00000412043.6",
"protein_id": "ENSP00000410909.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3378,
"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": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "ENST00000458177.7",
"protein_id": "ENSP00000391675.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4208,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.1593-13C>G",
"hgvs_p": null,
"transcript": "ENST00000475770.6",
"protein_id": null,
"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": 3973,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.1777+686C>G",
"hgvs_p": null,
"transcript": "ENST00000486261.5",
"protein_id": null,
"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": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "n.1237C>G",
"hgvs_p": null,
"transcript": "ENST00000688580.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "ENST00000650585.2",
"protein_id": "ENSP00000498010.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 799,
"cds_start": -4,
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"cds_length": 2400,
"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 10,
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"gene_symbol": "ENSG00000285953",
"gene_hgnc_id": null,
"hgvs_c": "c.1147-13C>G",
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"transcript": "ENST00000691972.1",
"protein_id": "ENSP00000510591.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "NM_001350672.1",
"protein_id": "NP_001337601.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "NM_001350673.1",
"protein_id": "NP_001337602.1",
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},
{
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],
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"gene_symbol": "KRIT1",
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"hgvs_c": "c.1147-13C>G",
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"transcript": "NM_001350674.1",
"protein_id": "NP_001337603.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 11,
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"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
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"transcript": "NM_001350675.1",
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},
{
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],
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"gene_symbol": "KRIT1",
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"hgvs_c": "c.1147-13C>G",
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"transcript": "NM_001350676.1",
"protein_id": "NP_001337605.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 10,
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"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "NM_001350677.1",
"protein_id": "NP_001337606.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 10,
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"gene_symbol": "KRIT1",
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"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "NM_001350678.1",
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},
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],
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"gene_symbol": "KRIT1",
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"hgvs_c": "c.1147-13C>G",
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},
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],
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"intron_rank": 10,
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"gene_symbol": "KRIT1",
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"hgvs_c": "c.1147-13C>G",
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"protein_id": "NP_001337609.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "NM_001350681.1",
"protein_id": "NP_001337610.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KRIT1",
"gene_hgnc_id": 1573,
"hgvs_c": "c.1147-13C>G",
"hgvs_p": null,
"transcript": "NM_001350682.1",
"protein_id": "NP_001337611.1",
"transcript_support_level": null,
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