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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: 2-3575640-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=3575640&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 3575640,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001011.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "NM_001011.4",
"protein_id": "NP_001002.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645674.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000645674.2",
"protein_id": "ENSP00000496757.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001011.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645674.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000462576.5",
"protein_id": "ENSP00000495273.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462576.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "n.8C>T",
"hgvs_p": null,
"transcript": "ENST00000479123.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479123.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "n.283C>T",
"hgvs_p": null,
"transcript": "ENST00000481006.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481006.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000403564.5",
"protein_id": "ENSP00000385018.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403564.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000406376.1",
"protein_id": "ENSP00000385286.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406376.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000646909.1",
"protein_id": "ENSP00000496654.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646909.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000905977.1",
"protein_id": "ENSP00000576036.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905977.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920288.1",
"protein_id": "ENSP00000590347.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920288.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920290.1",
"protein_id": "ENSP00000590349.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920290.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920291.1",
"protein_id": "ENSP00000590350.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920291.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920308.1",
"protein_id": "ENSP00000590367.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 194,
"cds_start": 31,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920308.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920292.1",
"protein_id": "ENSP00000590351.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 188,
"cds_start": 31,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920292.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920301.1",
"protein_id": "ENSP00000590360.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 188,
"cds_start": 31,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920301.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000407445.8",
"protein_id": "ENSP00000385729.3",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 187,
"cds_start": 31,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407445.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920297.1",
"protein_id": "ENSP00000590356.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 185,
"cds_start": 31,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920297.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920300.1",
"protein_id": "ENSP00000590359.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 184,
"cds_start": 31,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920300.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920293.1",
"protein_id": "ENSP00000590352.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 182,
"cds_start": 31,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920293.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920295.1",
"protein_id": "ENSP00000590354.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 170,
"cds_start": 31,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920295.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920303.1",
"protein_id": "ENSP00000590362.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 170,
"cds_start": 31,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920303.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS7",
"gene_hgnc_id": 10440,
"hgvs_c": "c.31C>T",
"hgvs_p": "p.Pro11Ser",
"transcript": "ENST00000920304.1",
"protein_id": "ENSP00000590363.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 170,
"cds_start": 31,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920304.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
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],
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"phenotype_combined": "Diamond-Blackfan anemia 8",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}