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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: 5-119541965-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=119541965&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 119541965,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000510025.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2182A>G",
"hgvs_p": "p.Met728Val",
"transcript": "NM_000414.4",
"protein_id": "NP_000405.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 736,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": "ENST00000510025.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2182A>G",
"hgvs_p": "p.Met728Val",
"transcript": "ENST00000510025.7",
"protein_id": "ENSP00000424940.3",
"transcript_support_level": 2,
"aa_start": 728,
"aa_end": null,
"aa_length": 736,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": "NM_000414.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2113A>G",
"hgvs_p": "p.Met705Val",
"transcript": "ENST00000509514.6",
"protein_id": "ENSP00000426272.2",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 713,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2257A>G",
"hgvs_p": "p.Met753Val",
"transcript": "NM_001199291.3",
"protein_id": "NP_001186220.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 761,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2257A>G",
"hgvs_p": "p.Met753Val",
"transcript": "ENST00000414835.7",
"protein_id": "ENSP00000411960.3",
"transcript_support_level": 2,
"aa_start": 753,
"aa_end": null,
"aa_length": 761,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2173A>G",
"hgvs_p": "p.Met725Val",
"transcript": "NM_001374497.1",
"protein_id": "NP_001361426.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 733,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2128A>G",
"hgvs_p": "p.Met710Val",
"transcript": "NM_001199292.2",
"protein_id": "NP_001186221.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 718,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2128A>G",
"hgvs_p": "p.Met710Val",
"transcript": "ENST00000515320.5",
"protein_id": "ENSP00000424613.1",
"transcript_support_level": 2,
"aa_start": 710,
"aa_end": null,
"aa_length": 718,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Met704Val",
"transcript": "NM_001292027.2",
"protein_id": "NP_001278956.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 712,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Met704Val",
"transcript": "NM_001374498.1",
"protein_id": "NP_001361427.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 712,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.2110A>G",
"hgvs_p": "p.Met704Val",
"transcript": "ENST00000682996.1",
"protein_id": "ENSP00000507792.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 712,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1855A>G",
"hgvs_p": "p.Met619Val",
"transcript": "NM_001374499.1",
"protein_id": "NP_001361428.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 627,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Met591Val",
"transcript": "NM_001374501.1",
"protein_id": "NP_001361430.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 599,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Met591Val",
"transcript": "NM_001374502.1",
"protein_id": "NP_001361431.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 599,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2454,
"cdna_end": null,
"cdna_length": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Met591Val",
"transcript": "NM_001374503.1",
"protein_id": "NP_001361432.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 599,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1771A>G",
"hgvs_p": "p.Met591Val",
"transcript": "ENST00000513628.5",
"protein_id": "ENSP00000425993.1",
"transcript_support_level": 2,
"aa_start": 591,
"aa_end": null,
"aa_length": 599,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Met588Val",
"transcript": "NM_001292028.2",
"protein_id": "NP_001278957.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 596,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1741A>G",
"hgvs_p": "p.Met581Val",
"transcript": "NM_001374500.1",
"protein_id": "NP_001361429.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1741A>G",
"hgvs_p": "p.Met581Val",
"transcript": "ENST00000645099.1",
"protein_id": "ENSP00000496091.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 589,
"cds_start": 1741,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "c.1426A>G",
"hgvs_p": "p.Met476Val",
"transcript": "ENST00000518349.6",
"protein_id": "ENSP00000507185.1",
"transcript_support_level": 5,
"aa_start": 476,
"aa_end": null,
"aa_length": 484,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "n.*737A>G",
"hgvs_p": null,
"transcript": "ENST00000442060.7",
"protein_id": "ENSP00000390208.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B4",
"gene_hgnc_id": 5213,
"hgvs_c": "n.842A>G",
"hgvs_p": null,
"transcript": "ENST00000503310.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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,
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"allele_count_reference_population": 10140,
"gnomad_exomes_af": 0.00396974,
"gnomad_genomes_af": 0.028529,
"gnomad_exomes_ac": 5798,
"gnomad_genomes_ac": 4342,
"gnomad_exomes_homalt": 207,
"gnomad_genomes_homalt": 194,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002113133668899536,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0753,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 20,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000510025.7",
"gene_symbol": "HSD17B4",
"hgnc_id": 5213,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2182A>G",
"hgvs_p": "p.Met728Val"
}
],
"clinvar_disease": "Bifunctional peroxisomal enzyme deficiency,Perrault syndrome,Perrault syndrome 1,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|not provided|Perrault syndrome 1|Bifunctional peroxisomal enzyme deficiency|Perrault syndrome;Bifunctional peroxisomal enzyme deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}