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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: 5-69121816-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69121816&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC30A5",
"hgnc_id": 19089,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.His564His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_022902.5",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000248664",
"hgnc_id": null,
"hgvs_c": "n.685-6414G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000690195.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_score": -11,
"allele_count_reference_population": 684416,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.38999998569488525,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 765,
"aa_ref": "H",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3992,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_022902.5",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.His564His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396591.8",
"protein_coding": true,
"protein_id": "NP_075053.2",
"strand": true,
"transcript": "NM_022902.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 765,
"aa_ref": "H",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3992,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 2298,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000396591.8",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.His564His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022902.5",
"protein_coding": true,
"protein_id": "ENSP00000379836.3",
"strand": true,
"transcript": "ENST00000396591.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000507354.5",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "n.1890C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000507354.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "H",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3171,
"cdna_start": 1922,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862257.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.His564His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532316.1",
"strand": true,
"transcript": "ENST00000862257.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "H",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1686,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862259.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1686C>T",
"hgvs_p": "p.His562His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532318.1",
"strand": true,
"transcript": "ENST00000862259.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 710,
"aa_ref": "H",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1527,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000862256.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1527C>T",
"hgvs_p": "p.His509His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532315.1",
"strand": true,
"transcript": "ENST00000862256.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 707,
"aa_ref": "H",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000968696.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1518C>T",
"hgvs_p": "p.His506His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638755.1",
"strand": true,
"transcript": "ENST00000968696.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 704,
"aa_ref": "H",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2994,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1509,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000968697.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1509C>T",
"hgvs_p": "p.His503His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638756.1",
"strand": true,
"transcript": "ENST00000968697.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 701,
"aa_ref": "H",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3813,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1500,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000862254.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.His500His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532313.1",
"strand": true,
"transcript": "ENST00000862254.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 687,
"aa_ref": "H",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1458,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000862258.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.His486His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532317.1",
"strand": true,
"transcript": "ENST00000862258.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 685,
"aa_ref": "H",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1458,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000862261.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.His486His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532320.1",
"strand": true,
"transcript": "ENST00000862261.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 503,
"aa_ref": "H",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1512,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000862255.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.His302His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532314.1",
"strand": true,
"transcript": "ENST00000862255.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 724,
"aa_ref": "H",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1569,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005248569.4",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1569C>T",
"hgvs_p": "p.His523His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248626.1",
"strand": true,
"transcript": "XM_005248569.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 722,
"aa_ref": "H",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006714672.5",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.His564His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714735.1",
"strand": true,
"transcript": "XM_006714672.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 681,
"aa_ref": "H",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1569,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_017009749.2",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1569C>T",
"hgvs_p": "p.His523His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865238.1",
"strand": true,
"transcript": "XM_017009749.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 579,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2598,
"cdna_start": null,
"cds_end": null,
"cds_length": 1740,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862260.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1569+3188C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532319.1",
"strand": true,
"transcript": "ENST00000862260.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968698.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "c.1248-1519C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638757.1",
"strand": true,
"transcript": "ENST00000968698.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000512367.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "n.380C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000512367.1",
"transcript_support_level": 2
},
{
"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": 555,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000513937.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "n.*58C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427111.1",
"strand": true,
"transcript": "ENST00000513937.1",
"transcript_support_level": 3
},
{
"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": 555,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000513937.1",
"gene_hgnc_id": 19089,
"gene_symbol": "SLC30A5",
"hgvs_c": "n.*58C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427111.1",
"strand": true,
"transcript": "ENST00000513937.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": null,
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