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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: 10-98430661-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98430661&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HPS1",
"hgnc_id": 5163,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Pro187Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_001322490.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000289758",
"hgnc_id": null,
"hgvs_c": "n.*136C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000699159.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_score": -16,
"allele_count_reference_population": 411,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "10",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 912,
"cds_end": null,
"cds_length": 2103,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000195.5",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361490.9",
"protein_coding": true,
"protein_id": "NP_000186.2",
"strand": false,
"transcript": "NM_000195.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 912,
"cds_end": null,
"cds_length": 2103,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000361490.9",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000195.5",
"protein_coding": true,
"protein_id": "ENSP00000355310.4",
"strand": false,
"transcript": "ENST00000361490.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 324,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 899,
"cds_end": null,
"cds_length": 975,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000338546.9",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343638.5",
"strand": false,
"transcript": "ENST00000338546.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000467246.5",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "n.*136C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514163.1",
"strand": false,
"transcript": "ENST00000467246.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000699159.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289758",
"hgvs_c": "n.*136C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514167.1",
"strand": false,
"transcript": "ENST00000699159.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000467246.5",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "n.*136C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514163.1",
"strand": false,
"transcript": "ENST00000467246.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000699159.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289758",
"hgvs_c": "n.*136C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514167.1",
"strand": false,
"transcript": "ENST00000699159.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 786,
"aa_ref": "P",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 2361,
"cds_start": 788,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000699134.1",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.788C>T",
"hgvs_p": "p.Pro263Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514151.1",
"strand": false,
"transcript": "ENST00000699134.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 713,
"cds_end": null,
"cds_length": 2133,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000699125.1",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Pro187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514146.1",
"strand": false,
"transcript": "ENST00000699125.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2909,
"cdna_start": 787,
"cds_end": null,
"cds_length": 2133,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000884309.1",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Pro187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554368.1",
"strand": false,
"transcript": "ENST00000884309.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 523,
"aa_ref": "P",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1572,
"cds_start": 374,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000963960.1",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Pro125Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634019.1",
"strand": false,
"transcript": "ENST00000963960.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "P",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 803,
"cds_end": null,
"cds_length": 927,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001322490.2",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Pro187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309419.1",
"strand": false,
"transcript": "NM_001322490.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 275,
"aa_ref": "P",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 723,
"cds_end": null,
"cds_length": 828,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001322492.2",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Pro187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309421.1",
"strand": false,
"transcript": "NM_001322492.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 308,
"aa_ref": "P",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 723,
"cds_end": null,
"cds_length": 927,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047425150.1",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Pro187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281106.1",
"strand": false,
"transcript": "XM_047425150.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 275,
"aa_ref": "P",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1392,
"cdna_start": 803,
"cds_end": null,
"cds_length": 828,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017016173.2",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Pro187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016871662.1",
"strand": false,
"transcript": "XM_017016173.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 714,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 777,
"cds_end": null,
"cds_length": 2145,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963962.1",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634021.1",
"strand": false,
"transcript": "ENST00000963962.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3632,
"cdna_start": 841,
"cds_end": null,
"cds_length": 2103,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001322476.2",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309405.1",
"strand": false,
"transcript": "NM_001322476.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 921,
"cds_end": null,
"cds_length": 2103,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001322477.2",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309406.1",
"strand": false,
"transcript": "NM_001322477.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3703,
"cdna_start": 912,
"cds_end": null,
"cds_length": 2103,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000325103.10",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326649.6",
"strand": false,
"transcript": "ENST00000325103.10",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 853,
"cds_end": null,
"cds_length": 2103,
"cds_start": 678,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000699142.1",
"gene_hgnc_id": 5163,
"gene_symbol": "HPS1",
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Ala226Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514159.1",
"strand": false,
"transcript": "ENST00000699142.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 700,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 844,
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]
}