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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: 11-71441283-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71441283&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "DHCR7",
"hgnc_id": 2860,
"hgvs_c": "c.-16C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000685320.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 3063,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Inborn genetic diseases,Smith-Lemli-Opitz syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7300000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000685320.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.-16C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509319.1",
"strand": false,
"transcript": "ENST00000685320.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001360.3",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355527.8",
"protein_coding": true,
"protein_id": "NP_001351.2",
"strand": false,
"transcript": "NM_001360.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000355527.8",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001360.3",
"protein_coding": true,
"protein_id": "ENSP00000347717.4",
"strand": false,
"transcript": "ENST00000355527.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000407721.6",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384739.2",
"strand": false,
"transcript": "ENST00000407721.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000685320.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.-16C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509319.1",
"strand": false,
"transcript": "ENST00000685320.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956192.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.-16C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626251.1",
"strand": false,
"transcript": "ENST00000956192.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956193.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.-16C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626252.1",
"strand": false,
"transcript": "ENST00000956193.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956194.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.-16C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626253.1",
"strand": false,
"transcript": "ENST00000956194.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 492,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 805,
"cds_end": null,
"cds_length": 1479,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001425107.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412036.1",
"strand": false,
"transcript": "NM_001425107.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 492,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1479,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000682708.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506866.1",
"strand": false,
"transcript": "ENST00000682708.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 487,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1464,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001425108.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Ala202Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412037.1",
"strand": false,
"transcript": "NM_001425108.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 487,
"aa_ref": "A",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1464,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000683287.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Ala202Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507607.1",
"strand": false,
"transcript": "ENST00000683287.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001163817.2",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157289.1",
"strand": false,
"transcript": "NM_001163817.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001425109.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412038.1",
"strand": false,
"transcript": "NM_001425109.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 818,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001425110.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412039.1",
"strand": false,
"transcript": "NM_001425110.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000525346.6",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435707.3",
"strand": false,
"transcript": "ENST00000525346.6",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000526780.6",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435668.2",
"strand": false,
"transcript": "ENST00000526780.6",
"transcript_support_level": 2
},
{
"aa_alt": "A",
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"aa_length": 475,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864862.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534921.1",
"strand": false,
"transcript": "ENST00000864862.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864863.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534922.1",
"strand": false,
"transcript": "ENST00000864863.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 732,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864864.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534923.1",
"strand": false,
"transcript": "ENST00000864864.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1428,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864865.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.570C>T",
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