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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: 19-10823862-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10823862&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2_Supporting",
"PS3",
"PS4",
"PS2",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNM2",
"hgnc_id": 2974,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 15,
"score": 15,
"transcript": "NM_001005360.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2_Supporting,PS3,PS4,PS2,PP2,PP3",
"acmg_score": 15,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9924,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.55,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Autosomal dominant centronuclear myopathy,Centronuclear myopathy,Charcot-Marie-Tooth disease dominant intermediate B,Fetal akinesia-cerebral and retinal hemorrhage syndrome,Severe X-linked myotubular myopathy,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:6 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9847345352172852,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001005361.3",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"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": "L",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000389253.9",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"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": "L",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000355667.11",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"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": "L",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2774,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2610,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000585892.5",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"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": "L",
"aa_end": null,
"aa_length": 866,
"aa_ref": "S",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000359692.10",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"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": "L",
"aa_end": null,
"aa_length": 900,
"aa_ref": "S",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3672,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1949,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957427.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1949C>T",
"hgvs_p": "p.Ser650Leu",
"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": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "S",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1931,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000916585.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1931C>T",
"hgvs_p": "p.Ser644Leu",
"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": "L",
"aa_end": null,
"aa_length": 891,
"aa_ref": "S",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1919,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957420.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1919C>T",
"hgvs_p": "p.Ser640Leu",
"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": "L",
"aa_end": null,
"aa_length": 879,
"aa_ref": "S",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 2640,
"cds_start": 1886,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957428.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1886C>T",
"hgvs_p": "p.Ser629Leu",
"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": "L",
"aa_end": null,
"aa_length": 876,
"aa_ref": "S",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 2143,
"cds_end": null,
"cds_length": 2631,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908373.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1874C>T",
"hgvs_p": "p.Ser625Leu",
"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": "L",
"aa_end": null,
"aa_length": 875,
"aa_ref": "S",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000908376.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1874C>T",
"hgvs_p": "p.Ser625Leu",
"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": "L",
"aa_end": null,
"aa_length": 875,
"aa_ref": "S",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957426.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1871C>T",
"hgvs_p": "p.Ser624Leu",
"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": "L",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000908381.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"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": "L",
"aa_end": null,
"aa_length": 873,
"aa_ref": "S",
"aa_start": 623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3172,
"cdna_start": 1984,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1868,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957430.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1868C>T",
"hgvs_p": "p.Ser623Leu",
"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": "L",
"aa_end": null,
"aa_length": 872,
"aa_ref": "S",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3654,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2619,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000957419.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1844C>T",
"hgvs_p": "p.Ser615Leu",
"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": "L",
"aa_end": null,
"aa_length": 870,
"aa_ref": "S",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001005360.3",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"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": "L",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2610,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001190716.2",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"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": "L",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 2610,
"cds_start": 1856,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957413.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ser619Leu",
"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": "L",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 2610,
"cds_start": 1853,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957416.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1853C>T",
"hgvs_p": "p.Ser618Leu",
"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": "L",
"aa_end": null,
"aa_length": 869,
"aa_ref": "S",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2040,
"cds_end": null,
"cds_length": 2610,
"cds_start": 1853,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000957417.1",
"gene_hgnc_id": 2974,
"gene_symbol": "DNM2",
"hgvs_c": "c.1853C>T",
"hgvs_p": "p.Ser618Leu",
"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
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 867,
"aa_ref": "S",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2604,
"cds_start": 1847,
"consequences": [
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],
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"phenotype_combined": "Severe X-linked myotubular myopathy|Centronuclear myopathy|not provided|Charcot-Marie-Tooth disease dominant intermediate B|Autosomal dominant centronuclear myopathy|Fetal akinesia-cerebral and retinal hemorrhage syndrome;Charcot-Marie-Tooth disease dominant intermediate B;Autosomal dominant centronuclear myopathy",
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}
]
}