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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: 2-230168917-A-ATTAATTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230168917&ref=A&alt=ATTAATTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230168917,
"ref": "A",
"alt": "ATTAATTTT",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001378442.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "NM_080424.4",
"protein_id": "NP_536349.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": null,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258381.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080424.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "ENST00000258381.11",
"protein_id": "ENSP00000258381.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": null,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080424.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258381.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "ENST00000358662.9",
"protein_id": "ENSP00000351488.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": null,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358662.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "ENST00000897327.1",
"protein_id": "ENSP00000567386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": null,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897327.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "ENST00000897328.1",
"protein_id": "ENSP00000567387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 639,
"cds_start": null,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897328.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "ENST00000931303.1",
"protein_id": "ENSP00000601362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": null,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "ENST00000897326.1",
"protein_id": "ENSP00000567385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": null,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "ENST00000948169.1",
"protein_id": "ENSP00000618228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": null,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948169.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "NM_001378442.1",
"protein_id": "NP_001365371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378442.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "NM_001378443.1",
"protein_id": "NP_001365372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378443.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
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"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "SP110",
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"hgvs_c": "c.*206_*207insAAAATTAA",
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"transcript": "NM_001378444.1",
"protein_id": "NP_001365373.1",
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"cds_start": null,
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
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"gene_symbol": "SP110",
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"transcript": "NM_001378445.1",
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},
{
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],
"exon_rank": 18,
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"intron_rank": null,
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"gene_symbol": "SP110",
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"transcript": "NM_004509.5",
"protein_id": "NP_004500.4",
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},
{
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],
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SP110",
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"hgvs_c": "c.*206_*207insAAAATTAA",
"hgvs_p": null,
"transcript": "NM_001378446.1",
"protein_id": "NP_001365375.1",
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},
{
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],
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},
{
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],
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},
{
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"strand": false,
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],
"exon_rank": 17,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "SP110",
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"hgvs_c": "c.*206_*207insAAAATTAA",
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"transcript": "ENST00000931303.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "SP110",
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},
{
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],
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"protein_id": "XP_016859457.1",
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"feature": "XM_017003968.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
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"intron_rank": null,
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"gene_symbol": "SP110",
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"hgvs_c": "c.*206_*207insAAAATTAA",
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"transcript": "XM_011511090.4",
"protein_id": "XP_011509392.1",
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},
{
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"consequences": [
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],
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}