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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: 1-239548263-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=239548263&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 239548263,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001375978.1",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-313+2514G>A",
"hgvs_p": null,
"transcript": "NM_001375978.1",
"protein_id": "NP_001362907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9179,
"mane_select": "ENST00000676153.1",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-313+2514G>A",
"hgvs_p": null,
"transcript": "ENST00000676153.1",
"protein_id": "ENSP00000502667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9179,
"mane_select": "NM_001375978.1",
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-542+2514G>A",
"hgvs_p": null,
"transcript": "NM_001347716.2",
"protein_id": "NP_001334645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9408,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-250+2514G>A",
"hgvs_p": null,
"transcript": "NM_001375979.1",
"protein_id": "NP_001362908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9116,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-250+2514G>A",
"hgvs_p": null,
"transcript": "NM_001375980.1",
"protein_id": "NP_001362909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9017,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-313+2514G>A",
"hgvs_p": null,
"transcript": "NM_001375981.1",
"protein_id": "NP_001362910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9080,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-313+2510G>A",
"hgvs_p": null,
"transcript": "NM_001375982.1",
"protein_id": "NP_001362911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9183,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-354+2514G>A",
"hgvs_p": null,
"transcript": "NM_001375983.1",
"protein_id": "NP_001362912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9220,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-417+2514G>A",
"hgvs_p": null,
"transcript": "NM_001375984.1",
"protein_id": "NP_001362913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9184,
"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,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-354+2514G>A",
"hgvs_p": null,
"transcript": "NM_001375985.1",
"protein_id": "NP_001362914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
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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": 6,
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"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-313+2514G>A",
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"transcript": "ENST00000615928.5",
"protein_id": "ENSP00000482377.1",
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},
{
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],
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"transcript": "ENST00000675184.1",
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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": "CHRM3",
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],
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},
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],
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"gene_symbol": "CHRM3",
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"transcript": "XM_017000159.2",
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},
{
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"consequences": [
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],
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"exon_count": 5,
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"gene_symbol": "CHRM3",
"gene_hgnc_id": 1952,
"hgvs_c": "c.-186+2514G>A",
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},
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}
],
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}