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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: 10-98429577-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98429577&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98429577,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000195.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "NM_000195.5",
"protein_id": "NP_000186.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "ENST00000361490.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000195.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000361490.9",
"protein_id": "ENSP00000355310.4",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "NM_000195.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361490.9"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000338546.9",
"protein_id": "ENSP00000343638.5",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 324,
"cds_start": 932,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338546.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "n.*291delG",
"hgvs_p": null,
"transcript": "ENST00000467246.5",
"protein_id": "ENSP00000514163.1",
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467246.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289758",
"gene_hgnc_id": null,
"hgvs_c": "n.*291delG",
"hgvs_p": null,
"transcript": "ENST00000699159.1",
"protein_id": "ENSP00000514167.1",
"transcript_support_level": null,
"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": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699159.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "n.*291delG",
"hgvs_p": null,
"transcript": "ENST00000467246.5",
"protein_id": "ENSP00000514163.1",
"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": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467246.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289758",
"gene_hgnc_id": null,
"hgvs_c": "n.*291delG",
"hgvs_p": null,
"transcript": "ENST00000699159.1",
"protein_id": "ENSP00000514167.1",
"transcript_support_level": null,
"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": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699159.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.1190delG",
"hgvs_p": "p.Ser397fs",
"transcript": "ENST00000699134.1",
"protein_id": "ENSP00000514151.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 786,
"cds_start": 1190,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 3972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699134.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.974delG",
"hgvs_p": "p.Ser325fs",
"transcript": "ENST00000963962.1",
"protein_id": "ENSP00000634021.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 714,
"cds_start": 974,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963962.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.962delG",
"hgvs_p": "p.Ser321fs",
"transcript": "ENST00000699125.1",
"protein_id": "ENSP00000514146.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 710,
"cds_start": 962,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699125.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.962delG",
"hgvs_p": "p.Ser321fs",
"transcript": "ENST00000884309.1",
"protein_id": "ENSP00000554368.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 710,
"cds_start": 962,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884309.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "NM_001322476.2",
"protein_id": "NP_001309405.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322476.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "NM_001322477.2",
"protein_id": "NP_001309406.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322477.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000325103.10",
"protein_id": "ENSP00000326649.6",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325103.10"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000699142.1",
"protein_id": "ENSP00000514159.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699142.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000884307.1",
"protein_id": "ENSP00000554366.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884307.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000884313.1",
"protein_id": "ENSP00000554372.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 2926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884313.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000884316.1",
"protein_id": "ENSP00000554375.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884316.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000884317.1",
"protein_id": "ENSP00000554376.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884317.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000884318.1",
"protein_id": "ENSP00000554377.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 700,
"cds_start": 932,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884318.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000914266.1",
"protein_id": "ENSP00000584325.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 688,
"cds_start": 932,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 2792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914266.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs",
"transcript": "ENST00000914268.1",
"protein_id": "ENSP00000584327.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 688,
"cds_start": 932,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914268.1"
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"cdna_length": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699153.1"
}
],
"gene_symbol": "HPS1",
"gene_hgnc_id": 5163,
"dbsnp": "rs281865091",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.902,
"phylop100way_prediction": "Benign",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_000195.5",
"gene_symbol": "HPS1",
"hgnc_id": 5163,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.932delG",
"hgvs_p": "p.Ser311fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000699159.1",
"gene_symbol": "ENSG00000289758",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*291delG",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}