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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: 19-54207474-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54207474&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54207474,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001013.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "NM_001013.4",
"protein_id": "NP_001004.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302907.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000302907.9",
"protein_id": "ENSP00000302896.4",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302907.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000391753.6",
"protein_id": "ENSP00000375633.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000391753.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.*948C>T",
"hgvs_p": null,
"transcript": "ENST00000441429.1",
"protein_id": "ENSP00000414314.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.*57C>T",
"hgvs_p": null,
"transcript": "ENST00000391751.7",
"protein_id": "ENSP00000375631.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391751.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "n.786C>T",
"hgvs_p": null,
"transcript": "ENST00000495002.5",
"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": "ENST00000495002.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.529C>T",
"hgvs_p": "p.Arg177Cys",
"transcript": "ENST00000919255.1",
"protein_id": "ENSP00000589314.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 209,
"cds_start": 529,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919255.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175Cys",
"transcript": "ENST00000919254.1",
"protein_id": "ENSP00000589313.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 207,
"cds_start": 523,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919254.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Cys",
"transcript": "ENST00000910928.1",
"protein_id": "ENSP00000580987.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 203,
"cds_start": 511,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910928.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Cys",
"transcript": "ENST00000919253.1",
"protein_id": "ENSP00000589312.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 203,
"cds_start": 511,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919253.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Cys",
"transcript": "ENST00000919257.1",
"protein_id": "ENSP00000589316.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 203,
"cds_start": 511,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919257.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "NM_001321701.2",
"protein_id": "NP_001308630.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "NM_001321701.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "NM_001321702.2",
"protein_id": "NP_001308631.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "NM_001321702.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "NM_001321704.2",
"protein_id": "NP_001308633.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "NM_001321704.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000391752.5",
"protein_id": "ENSP00000375632.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000391752.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000910926.1",
"protein_id": "ENSP00000580985.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000910926.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000910927.1",
"protein_id": "ENSP00000580986.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000910927.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000910930.1",
"protein_id": "ENSP00000580989.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000910930.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000919246.1",
"protein_id": "ENSP00000589305.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000919246.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000919247.1",
"protein_id": "ENSP00000589306.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000919247.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000919248.1",
"protein_id": "ENSP00000589307.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000919248.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS9",
"gene_hgnc_id": 10442,
"hgvs_c": "c.484C>T",
"hgvs_p": "p.Arg162Cys",
"transcript": "ENST00000919250.1",
"protein_id": "ENSP00000589309.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"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": "ENST00000919250.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
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{
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}