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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: 19-41302911-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41302911&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41302911,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001439168.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Arg645Gln",
"transcript": "NM_007040.6",
"protein_id": "NP_008971.2",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 856,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392006.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007040.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Arg645Gln",
"transcript": "ENST00000392006.8",
"protein_id": "ENSP00000375863.2",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 856,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007040.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392006.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Arg645Gln",
"transcript": "ENST00000602130.5",
"protein_id": "ENSP00000470687.1",
"transcript_support_level": 1,
"aa_start": 645,
"aa_end": null,
"aa_length": 804,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602130.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000352456.7",
"protein_id": "ENSP00000340857.3",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 766,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352456.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "n.*1510G>A",
"hgvs_p": null,
"transcript": "ENST00000595196.5",
"protein_id": "ENSP00000472315.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000595196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "n.*1510G>A",
"hgvs_p": null,
"transcript": "ENST00000595196.5",
"protein_id": "ENSP00000472315.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000595196.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Arg645Gln",
"transcript": "NM_001439168.1",
"protein_id": "NP_001426097.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 866,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439168.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Arg645Gln",
"transcript": "ENST00000851914.1",
"protein_id": "ENSP00000521973.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 856,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851914.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Arg645Gln",
"transcript": "NM_001439167.1",
"protein_id": "NP_001426096.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 804,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439167.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Arg645Gln",
"transcript": "NM_001439169.1",
"protein_id": "NP_001426098.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 792,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439169.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556Gln",
"transcript": "NM_001439170.1",
"protein_id": "NP_001426099.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 777,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439170.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556Gln",
"transcript": "NM_001301016.3",
"protein_id": "NP_001287945.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 767,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301016.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556Gln",
"transcript": "ENST00000263367.7",
"protein_id": "ENSP00000263367.3",
"transcript_support_level": 2,
"aa_start": 556,
"aa_end": null,
"aa_length": 767,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263367.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001439171.1",
"protein_id": "NP_001426100.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 766,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439171.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001439172.1",
"protein_id": "NP_001426101.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 766,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439172.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001439173.1",
"protein_id": "NP_001426102.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 766,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439173.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001321208.2",
"protein_id": "NP_001308137.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 756,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321208.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001321211.2",
"protein_id": "NP_001308140.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 756,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321211.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_001439177.1",
"protein_id": "NP_001426106.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 756,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439177.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "NM_144732.5",
"protein_id": "NP_653333.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 756,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144732.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000593587.5",
"protein_id": "ENSP00000472629.1",
"transcript_support_level": 2,
"aa_start": 545,
"aa_end": null,
"aa_length": 756,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593587.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPUL1",
"gene_hgnc_id": 17011,
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545Gln",
"transcript": "ENST00000595018.5",
"protein_id": "ENSP00000473132.1",
"transcript_support_level": 2,
"aa_start": 545,
"aa_end": null,
"aa_length": 756,
"cds_start": 1634,
"cds_end": null,
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"cdna_start": null,
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],
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"dbsnp": "rs147281768",
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"computational_score_selected": 0.3105781376361847,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.542,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.611,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
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"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001439168.1",
"gene_symbol": "HNRNPUL1",
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"effects": [
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],
"inheritance_mode": "AD",
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},
{
"score": -1,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000598758.5",
"gene_symbol": "TGFB1",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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}
],
"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
}