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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: 6-83573042-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83573042&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 83573042,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000369694.7",
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "c.2442+1968T>C",
"hgvs_p": null,
"transcript": "NM_001242792.2",
"protein_id": "NP_001229721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": -4,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "ENST00000369694.7",
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "c.2442+1968T>C",
"hgvs_p": null,
"transcript": "ENST00000369694.7",
"protein_id": "ENSP00000358708.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": -4,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "NM_001242792.2",
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "c.2352+1968T>C",
"hgvs_p": null,
"transcript": "ENST00000520302.5",
"protein_id": "ENSP00000428511.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": -4,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4136,
"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": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "c.1521+1968T>C",
"hgvs_p": null,
"transcript": "ENST00000520213.5",
"protein_id": "ENSP00000428026.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "n.*2533+1968T>C",
"hgvs_p": null,
"transcript": "ENST00000518312.5",
"protein_id": "ENSP00000429937.1",
"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": 4493,
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "c.2442+1968T>C",
"hgvs_p": null,
"transcript": "NM_014841.3",
"protein_id": "NP_055656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": -4,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "c.2442+1968T>C",
"hgvs_p": null,
"transcript": "ENST00000439399.6",
"protein_id": "ENSP00000400459.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 907,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4452,
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "c.2442+1968T>C",
"hgvs_p": null,
"transcript": "ENST00000521743.5",
"protein_id": "ENSP00000428215.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": -4,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4263,
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "SNAP91",
"gene_hgnc_id": 14986,
"hgvs_c": "c.2436+1968T>C",
"hgvs_p": null,
"transcript": "NM_001376675.1",
"protein_id": "NP_001363604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "SNAP91",
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"hgvs_c": "c.2436+1968T>C",
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"transcript": "NM_001376676.1",
"protein_id": "NP_001363605.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "SNAP91",
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"hgvs_c": "c.2436+1968T>C",
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"transcript": "NM_001376677.1",
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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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],
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},
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],
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}