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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: 19-10829113-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10829113&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DNM2",
"hgnc_id": 2974,
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Ser712Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -11,
"transcript": "NM_001005360.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR6793",
"hgnc_id": 50251,
"hgvs_c": "n.*78G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -10,
"transcript": "NR_106851.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate B,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2136,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001005361.3",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Ser712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389253.9",
"protein_coding": true,
"protein_id": "NP_001005361.1",
"strand": true,
"transcript": "NM_001005361.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2136,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000389253.9",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Ser712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001005361.3",
"protein_coding": true,
"protein_id": "ENSP00000373905.4",
"strand": true,
"transcript": "ENST00000389253.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2136,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000355667.11",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Ser712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347890.6",
"strand": true,
"transcript": "ENST00000355667.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2136,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000585892.5",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Ser712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468734.1",
"strand": true,
"transcript": "ENST00000585892.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 866,
"aa_ref": "S",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2601,
"cds_start": 2124,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000359692.10",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2124G>T",
"hgvs_p": "p.Ser708Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352721.6",
"strand": true,
"transcript": "ENST00000359692.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 900,
"aa_ref": "S",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3672,
"cdna_start": 2342,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2229,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000957427.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2229G>T",
"hgvs_p": "p.Ser743Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627486.1",
"strand": true,
"transcript": "ENST00000957427.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2211,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000916585.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2211G>T",
"hgvs_p": "p.Ser737Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586644.1",
"strand": true,
"transcript": "ENST00000916585.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 891,
"aa_ref": "S",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2199,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957420.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2199G>T",
"hgvs_p": "p.Ser733Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627479.1",
"strand": true,
"transcript": "ENST00000957420.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 879,
"aa_ref": "S",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 2640,
"cds_start": 2166,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000957428.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2166G>T",
"hgvs_p": "p.Ser722Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627487.1",
"strand": true,
"transcript": "ENST00000957428.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 876,
"aa_ref": "S",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 2631,
"cds_start": 2154,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000908373.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2154G>T",
"hgvs_p": "p.Ser718Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578432.1",
"strand": true,
"transcript": "ENST00000908373.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 875,
"aa_ref": "S",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2154,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000908376.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2154G>T",
"hgvs_p": "p.Ser718Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578435.1",
"strand": true,
"transcript": "ENST00000908376.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 875,
"aa_ref": "S",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2151,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957426.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2151G>T",
"hgvs_p": "p.Ser717Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627485.1",
"strand": true,
"transcript": "ENST00000957426.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2145,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000908381.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2145G>T",
"hgvs_p": "p.Ser715Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578440.1",
"strand": true,
"transcript": "ENST00000908381.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2148,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957430.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2148G>T",
"hgvs_p": "p.Ser716Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627489.1",
"strand": true,
"transcript": "ENST00000957430.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 872,
"aa_ref": "S",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3654,
"cdna_start": 2324,
"cds_end": null,
"cds_length": 2619,
"cds_start": 2145,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957419.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2145G>T",
"hgvs_p": "p.Ser715Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627478.1",
"strand": true,
"transcript": "ENST00000957419.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2613,
"cds_start": 2136,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001005360.3",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Ser712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005360.1",
"strand": true,
"transcript": "NM_001005360.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2136,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001190716.2",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Ser712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177645.1",
"strand": true,
"transcript": "NM_001190716.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2136,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957413.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2136G>T",
"hgvs_p": "p.Ser712Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627472.1",
"strand": true,
"transcript": "ENST00000957413.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2133,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957416.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2133G>T",
"hgvs_p": "p.Ser711Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627475.1",
"strand": true,
"transcript": "ENST00000957416.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2133,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000957417.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.2133G>T",
"hgvs_p": "p.Ser711Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627476.1",
"strand": true,
"transcript": "ENST00000957417.1",
"transcript_support_level": null
},
{
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