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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: 4-41637499-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=41637499&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 41637499,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000503057.6",
"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": 32,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.2091-1433A>C",
"hgvs_p": null,
"transcript": "NM_001330672.2",
"protein_id": "NP_001317601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1467,
"cds_start": -4,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7697,
"mane_select": "ENST00000503057.6",
"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": 32,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.2091-1433A>C",
"hgvs_p": null,
"transcript": "ENST00000503057.6",
"protein_id": "ENSP00000425631.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1467,
"cds_start": -4,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7697,
"mane_select": "NM_001330672.2",
"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": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.936-1433A>C",
"hgvs_p": null,
"transcript": "ENST00000313860.12",
"protein_id": "ENSP00000316891.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": -4,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6145,
"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": 26,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.936-7001A>C",
"hgvs_p": null,
"transcript": "ENST00000512820.5",
"protein_id": "ENSP00000424437.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": -4,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5071,
"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": 26,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.936-1433A>C",
"hgvs_p": null,
"transcript": "ENST00000512946.5",
"protein_id": "ENSP00000424645.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1057,
"cds_start": -4,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5057,
"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": 26,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.936-1433A>C",
"hgvs_p": null,
"transcript": "ENST00000508501.5",
"protein_id": "ENSP00000424825.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": -4,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
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"cdna_length": 5054,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.936-1433A>C",
"hgvs_p": null,
"transcript": "ENST00000512632.5",
"protein_id": "ENSP00000427045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4792,
"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": 26,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.459-7001A>C",
"hgvs_p": null,
"transcript": "ENST00000513024.5",
"protein_id": "ENSP00000425222.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 910,
"cds_start": -4,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5129,
"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": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LIMCH1",
"gene_hgnc_id": 29191,
"hgvs_c": "c.474-1433A>C",
"hgvs_p": null,
"transcript": "ENST00000396595.7",
"protein_id": "ENSP00000379840.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": -4,
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"cds_length": 2709,
"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "LIMCH1",
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"hgvs_c": "c.459-1433A>C",
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"transcript": "ENST00000511496.5",
"protein_id": "ENSP00000421242.1",
"transcript_support_level": 1,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "LIMCH1",
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"hgvs_c": "c.495-7001A>C",
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"transcript": "ENST00000514096.5",
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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": "LIMCH1",
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],
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],
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},
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],
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"hgvs_c": "c.936-1433A>C",
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],
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"gene_symbol": "LIMCH1",
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"hgvs_c": "c.936-1433A>C",
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},
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],
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"gene_symbol": "LIMCH1",
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