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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: 3-18349237-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=18349237&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 18349237,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "NM_001195470.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "NM_002971.6",
"protein_id": "NP_002962.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338745.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002971.6"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000338745.11",
"protein_id": "ENSP00000341024.5",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002971.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338745.11"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2320dupT",
"hgvs_p": "p.Ser774fs",
"transcript": "ENST00000417717.6",
"protein_id": "ENSP00000399518.1",
"transcript_support_level": 1,
"aa_start": 774,
"aa_end": null,
"aa_length": 795,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417717.6"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000454909.6",
"protein_id": "ENSP00000399708.2",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454909.6"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2320dupT",
"hgvs_p": "p.Ser774fs",
"transcript": "NM_001195470.3",
"protein_id": "NP_001182399.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 795,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195470.3"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2320dupT",
"hgvs_p": "p.Ser774fs",
"transcript": "NM_001322871.2",
"protein_id": "NP_001309800.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 795,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322871.2"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2320dupT",
"hgvs_p": "p.Ser774fs",
"transcript": "ENST00000920137.1",
"protein_id": "ENSP00000590196.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 795,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920137.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2320dupT",
"hgvs_p": "p.Ser774fs",
"transcript": "ENST00000941468.1",
"protein_id": "ENSP00000611527.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 795,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941468.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2320dupT",
"hgvs_p": "p.Ser774fs",
"transcript": "ENST00000941470.1",
"protein_id": "ENSP00000611529.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 795,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941470.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2314dupT",
"hgvs_p": "p.Ser772fs",
"transcript": "ENST00000941471.1",
"protein_id": "ENSP00000611530.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 793,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941471.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "NM_001131010.4",
"protein_id": "NP_001124482.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131010.4"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "NM_001322872.2",
"protein_id": "NP_001309801.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322872.2"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "NM_001322873.2",
"protein_id": "NP_001309802.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322873.2"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "NM_001322874.2",
"protein_id": "NP_001309803.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322874.2"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "NM_001322875.2",
"protein_id": "NP_001309804.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322875.2"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000415069.6",
"protein_id": "ENSP00000390529.2",
"transcript_support_level": 3,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415069.6"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000457005.6",
"protein_id": "ENSP00000398072.2",
"transcript_support_level": 4,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457005.6"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000700177.1",
"protein_id": "ENSP00000514845.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700177.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000700178.1",
"protein_id": "ENSP00000514846.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700178.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000700179.1",
"protein_id": "ENSP00000514847.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700179.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000700180.1",
"protein_id": "ENSP00000514848.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700180.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB1",
"gene_hgnc_id": 10541,
"hgvs_c": "c.2224dupT",
"hgvs_p": "p.Ser742fs",
"transcript": "ENST00000866365.1",
"protein_id": "ENSP00000536424.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 763,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2292,
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{
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}