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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: 7-99417521-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99417521&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99417521,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003910.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "NM_003910.4",
"protein_id": "NP_003901.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222969.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003910.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000222969.10",
"protein_id": "ENSP00000222969.5",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003910.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222969.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000403633.6",
"protein_id": "ENSP00000386023.2",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403633.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.*2446G>A",
"hgvs_p": null,
"transcript": "NM_015545.4",
"protein_id": "NP_056360.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292478.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015545.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD1",
"gene_hgnc_id": 22198,
"hgvs_c": "c.*2446G>A",
"hgvs_p": null,
"transcript": "ENST00000292478.9",
"protein_id": "ENSP00000292478.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 700,
"cds_start": null,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015545.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292478.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Trp",
"transcript": "ENST00000966323.1",
"protein_id": "ENSP00000636382.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 158,
"cds_start": 352,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966323.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "NM_001370407.1",
"protein_id": "NP_001357336.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370407.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "NM_001370410.1",
"protein_id": "NP_001357339.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370410.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911008.1",
"protein_id": "ENSP00000581067.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911008.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911009.1",
"protein_id": "ENSP00000581068.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911009.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911010.1",
"protein_id": "ENSP00000581069.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911010.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911011.1",
"protein_id": "ENSP00000581070.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911011.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911012.1",
"protein_id": "ENSP00000581071.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911012.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911013.1",
"protein_id": "ENSP00000581072.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911013.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911015.1",
"protein_id": "ENSP00000581074.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911015.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911016.1",
"protein_id": "ENSP00000581075.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911016.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000911017.1",
"protein_id": "ENSP00000581076.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911017.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000927019.1",
"protein_id": "ENSP00000597078.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927019.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000927022.1",
"protein_id": "ENSP00000597081.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927022.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000927026.1",
"protein_id": "ENSP00000597085.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927026.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000927027.1",
"protein_id": "ENSP00000597086.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927027.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUD31",
"gene_hgnc_id": 29629,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000927028.1",
"protein_id": "ENSP00000597087.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 144,
"cds_start": 310,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927028.1"
},
{
"aa_ref": "R",
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"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.000040437,
"gnomad_genomes_af": 0.000078855,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7150395512580872,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.717,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.54,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003910.4",
"gene_symbol": "BUD31",
"hgnc_id": 29629,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001198879.2",
"gene_symbol": "ATP5MF-PTCD1",
"hgnc_id": 38844,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*2446G>A",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015545.4",
"gene_symbol": "PTCD1",
"hgnc_id": 22198,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*2446G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"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
}